ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.1383G>C (p.Glu461Asp)

dbSNP: rs727504548
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155707 SCV000205417 likely pathogenic Rare genetic deafness 2016-05-04 criteria provided, single submitter clinical testing The p.Glu461Asp variant in MYO6 has been identified by our laboratory in one ind ividual with hearing loss and segregated in three affected relatives. This vari ant was absent from large population studies. Computational prediction tools and conservation analyses suggest that the p.Glu461Asp variant may impact the prote in, though this information is not predictive enough to determine pathogenicity. In summary, although additional studies are required to fully establish its cli nical significance, this variant is likely pathogenic for autosomal dominant hea ring loss.

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