ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1531G>A (p.Asp511Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004800210 SCV005422081 likely pathogenic Autosomal dominant nonsyndromic hearing loss 11 2024-10-25 criteria provided, single submitter clinical testing Variant summary: MYO7A c.1531G>A (p.Asp511Asn) results in a conservative amino acid change located in the Myosin head, motor domain-like domain (IPR001609) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 156928 control chromosomes. c.1531G>A has been reported in the literature in individuals affected with Autosomal Dominant Nonsyndromic Hearing Loss 11 and segregated with disease in at least one family (Xia_2023). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 37727480). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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