GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
MYL2 A13Tpathogenic, f=0.000dominant

This rare variant is reported to cause late-onset familial hypertrophic cardiomyopathy. The variant has been found in five affected Caucasian individuals (in four families), but affected non-carriers and unaffected carriers have also been observed. No statistically significant enrichment of this variant in cases vs. controls has been shown. This variant is reported in ClinVar ( with conflicting interpretations: two sources classify it as pathogenic, three as “uncertain significance”, and one as “likely benign”.

(44 web hits)

CGI sample GS00253-DNA_F01_200_37
MYL2 F18Linsufficiently evaluated pathogenicunknown

(16 web hits)

MYL2 E22Kinsufficiently evaluated pathogenicunknown

(36 web hits)

MYL2 N47Kpathogenicdominant

Reported in ClinVar by multiple groups, potentially causing cardiomyopathy in a dominant fashion ( GeneDx classified this as pathogenic, and other groups classified the effect as uncertain. However, according to ExAC data 1 in 1700 with European descent carry this variant. This could be seen as contradicting the proposed effect, because such a high frequency would suggest this variant (if causal) should account for a large fraction of cases and should thus have strong supporting evidence (i.e. far stronger than “uncertain” status with specialist groups).

MYL2 R58Qinsufficiently evaluated pathogenicunknown

(17 web hits)

MYL2 P94Rinsufficiently evaluated pathogenicunknown

(3 web hits)

Total results: 6

Gene search

"GENE" or "GENE A123C":

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