GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
SCN5A R34Cinsufficiently evaluated benign, f=0.031unknown

SNC5A is the cardiac sodium channel gene. Mutations in this gene have been associated with idiopathic ventricular fibrillation and Burgunda Syndrome, however, the R34C mutation of the gene has been largely identified as benign with no noticeable phenotypic effect.

Although this gene is associated with acquired Long-QT syndrome (alQTS) Yang et al. found no difference in the frequency of this variant in alQTS patients and controls (3% versus 3%).

(82 web hits)

hu3215A7 build 36 substitution variants
hu728FFF build 36 substitution variants
SCN5A T220Iinsufficiently evaluated pathogenicunknown

(47 web hits)

SCN5A Q298Sinsufficiently evaluated pathogenicunknown
SCN5A R367Hinsufficiently evaluated pathogenicunknown

(58 web hits)

SCN5A R513Cinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
SCN5A G514Cinsufficiently evaluated pathogenicunknown

(73 web hits)

SCN5A S524Yinsufficiently evaluated not reviewed, f=0.012unknown

The rare variant SCN5A-S524Y does not appear to be a risk for cardiac arrhythmia in a case-control study.

CGI sample GS01669-DNA_B05 from PGP sample 86486261
SCN5A R533Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS19703-1100-36-ASM
SCN5A H558Rinsufficiently evaluated pharmacogenetic, f=0.246unknown

(393 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS000006909 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_D01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
SCN5A G615Epathogenic, f=0.000dominant

Rare, reported to be associated with long-QT syndrome (can cause syncopal spells, sudden death as a teenager / young adult), but observations are scattered may have some publication bias.

(32 web hits)

CGI sample GS00253-DNA_A02_200_37
SCN5A P627Lpathogenicdominant

Reported by ClinVar to cause disease ( The condition is unspecified in ClinVar, but other variants in this gene cause dominantly-inherited heart diseases, including Brugada syndrome, familial dilated cardiomyopathy, and Romano-Ward syndrom.

In ClinVar this variant is reported as “pathogenic” by GeneDx. However, it is classified as “uncertain significance” by the Stanford Center for Inherited Cardiovascular Disease. Neither ClinVar submission includes references to published literature. The frequency of this variant is extremely rare according to ExAC data (

SCN5A A735Vinsufficiently evaluated pathogenicunknown

(31 web hits)

SCN5A Y774YPYinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
SCN5A V789Iuncertain benignunknown

Reported to cause Brugada syndrome (increased risk of sudden cardiac death), but the reported observation doesn’t different from the variant’s general allele frequency. Kapplinger et al. 2009 reported seeing this variant once in 2,111 patients and not in 1,300 controls. ExAC reports the variant present in 9 out of 33,201 individuals with European ancestry (1 in 3,700). This allele frequency indicates the reported observation was almost certainly coincidental as it is consistent with ExAC’s allele frequency for the general population. Brugada syndrome is estimated to affect 1 in 2,000; if this variant were causal with any notable penetrance, it would be found in a large fraction of patients. Based on updated allele frequency information data, this hypothesis should be considered disproven.

SCN5A S941Ninsufficiently evaluated pathogenicunknown

(47 web hits)

SCN5A A997Sinsufficiently evaluated pathogenicunknown

The rare variant SCN5A-A997S does not appear to be a risk for cardiac arrhythmia in a case-control study.

(38 web hits)

SCN5A E1053Kinsufficiently evaluated pathogenicunknown

(135 web hits)

SCN5A S1102Yinsufficiently evaluated not reviewedunknown

(45 web hits)

SCN5A S1103Yinsufficiently evaluated pathogenic, f=0.016other

This is a common variant in individuals of African descent (African American allele frequency 6.8%). It is associated with an increased risk of cardiac arrhythmia (odds ratio of 8.7 for both homozygous and heterozygous carriers) and of sudden infant death syndrome (24-fold increase for homozygous).

(312 web hits)

SCN5A R1193Qlikely pathogenic, f=0.008dominant

Proposed as a dominant cause of rare heart arrhythmia diseases (Brugada Syndrome and Long QT Syndrome). This has since been contradicted by the high frequency of this variant in the Han Chinese population. 14% of Chinese are carriers, contradicting this variant as a high penetrance cause of rare disease. It is possible the variant is associated with low increased risk of Long QT syndrome, but this is a speculative and untested hypothesis.

(278 web hits)

SCN5A G1262Sinsufficiently evaluated pathogenicunknown

(14 web hits)

SCN5A D1275Ninsufficiently evaluated pathogenicunknown

(133 web hits)

SCN5A P1298Linsufficiently evaluated pathogenicunknown

(13 web hits)

SCN5A N1325Sinsufficiently evaluated pathogenicunknown

(236 web hits)

SCN5A G1408Rinsufficiently evaluated pathogenicunknown

(27 web hits)

SCN5A W1421Xinsufficiently evaluated pathogenicunknown

(24 web hits)

SCN5A A1428Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
SCN5A R1512Winsufficiently evaluated pathogenicunknown

(192 web hits)

SCN5A T1591Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
SCN5A D1595Hinsufficiently evaluated pathogenicunknown

(40 web hits)

SCN5A D1595Ninsufficiently evaluated pathogenicunknown

(33 web hits)

SCN5A R1623Qinsufficiently evaluated pathogenicunknown

(273 web hits)

SCN5A R1623Xinsufficiently evaluated pathogenicunknown

(40 web hits)

SCN5A R1644Hinsufficiently evaluated pathogenicunknown

(84 web hits)

SCN5A S1710Linsufficiently evaluated pathogenicunknown

(50 web hits)

SCN5A P1731Hinsufficiently evaluated not reviewedunknown
SCN5A P1752Hinsufficiently evaluated not reviewedunknown
SCN5A P1767Hinsufficiently evaluated not reviewedunknown
SCN5A R1772Hinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
SCN5A E1784Kinsufficiently evaluated pathogenicunknown

(355 web hits)

SCN5A P1784Hinsufficiently evaluated not reviewedunknown
SCN5A P1785Hinsufficiently evaluated not reviewedunknown
SCN5A Y1795Cinsufficiently evaluated pathogenicunknown

(201 web hits)

SCN5A Y1795Hinsufficiently evaluated pathogenicunknown

(162 web hits)

SCN5A D1819Ninsufficiently evaluated pathogenicunknown

(2 web hits)

SCN5A R1826Hinsufficiently evaluated pathogenicunknown

(39 web hits)

SCN5A R1897Winsufficiently evaluated not reviewed, f=0.008unknown var-GS10851-1100-36-ASM
SCN5A V1897Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
SCN5A A1924Tinsufficiently evaluated pathogenicunknown

(53 web hits)

SCN5A F1950Linsufficiently evaluated not reviewed, f=0.002unknown CGI sample GS000006909
SCN5A V1951Linsufficiently evaluated not reviewed, f=0.008unknown

The rare variant SCN5A-V1951L does not appear to be a risk for cardiac arrhythmia in a case-control study.

SCN5A L1988Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
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Total results: 52

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