GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MYO1A A79Sinsufficiently evaluated not reviewedunknown hu34D5B9 exome
MYO1A R93Xuncertain benign, f=0.004unknown

Reported to cause deafness in a dominant manner, as recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000008623/). This effect comes from Donaudy et al 2003 (PMID: 12736868), who saw this variant once in a study of 230 Italian hearing-impaired patients. However, this variant has an allele frequency of 0.42% in European ExAC data – 1 in 120 are expected to carry the variant. Donaudy et al’s observation matches the population in general, and the allele frequency far exceeds the prevalence of the condition; thus, this reported effect should be considered disproven.

MYO1A R220Qinsufficiently evaluated not reviewed, f=0.001unknown var-GS19239-1100-36-ASM
MYO1A V306Muncertain benign, f=0.006unknown

Probably benign. Other variants in this gene implicated in causing autosomal dominant nonsyndromic deafness. This variant was also considered potentially pathogenic, but subsequent allele frequency data strongly contradicts such a hypothesis.

MYO1A N362Kinsufficiently evaluated noneunknown
MYO1A E385Dinsufficiently evaluated pathogenic, f=0.000unknown
MYO1A P426Linsufficiently evaluated not reviewed, f=0.001unknown var-GS19735-1100-36-ASM
var-GS19669-1100-36-ASM
MYO1A R447Qinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
MYO1A R628Ginsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
MYO1A G662Elikely pathogenic, f=0.026dominant

Although one report speculated that this variant may cause dominant, early-onset sensorineural hearing loss, the findings lacked statistical significance. Notably, this gene is not a clinically tested gene and another of the eight variants reported by these authors (S797F) has since been observed in a PGP participant with no symptoms of hearing loss.

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000005532
CGI sample GS01669-DNA_H05 from PGP sample 10971581
MYO1A S797Flikely pathogenic, f=0.005dominant

Although reported to cause dominant, early-onset sensorineural hearing loss, this variant has been reported in the genome of an unaffected PGP participant.

CGI sample GS00253-DNA_A01_200_37
MYO1A S910Pinsufficiently evaluated pathogenicunknown
MYO1A T996Iinsufficiently evaluated none, f=0.085unknown hu3215A7 build 36 substitution variants
var-GS18558-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_B01 from PGP sample 86206034
hu728FFF build 36 substitution variants
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
MYO1A V999Minsufficiently evaluated none, f=0.000unknown
MYO1A E1009Ainsufficiently evaluated none, f=0.022unknown var-GS18517-1100-36-ASM
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Total results: 15

Gene search

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