ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser)

dbSNP: rs781790246
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Total submissions: 3
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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 RCV000825401 SCV000966698 likely pathogenic Rare genetic deafness 2020-10-22 criteria provided, single submitter clinical testing The p.Arg83Ser variant in MYO7A was identified by our laboratory in 1 Yemeni family with hearing loss, and in 1 Pakistani family with hearing loss in which the variant was homozygous (Richard 2019 PMID: 30303587). In the family observed at our laboratory, the variant was confirmed to be homozygous in three siblings with hearing loss, heterozygous in the unaffected parents, and absent from an unaffected sibling. Furthermore, two of the siblings had normal eye exams at approximate ages of 13 and 7 years, though ERGs were not performed. In the family reported in Richard 2019, the variant was homozygous in 4 affected siblings and parents were confirmed heterozygous. This variant was not identified in large population studies, and was not identified in 112 Pakistani control alleles (Richard 2019 PMID: 30303587). Computational prediction tools and conservation analysis suggest that the p.Arg83Ser variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive hearing loss; however, it is unknown whether or not this variant could cause autosomal recessive Usher syndrome. ACMG/AMP criteria applied: PP1_Strong, PM2, PP3, PM3_Supporting.
Center for Statistical Genetics, Columbia University RCV000679823 SCV000804814 pathogenic Deafness 2018-09-10 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291463 SCV001479967 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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