ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1052C>A (p.Ser351Ter)

dbSNP: rs782639389
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073269 SCV001238805 likely pathogenic Retinal dystrophy 2018-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558648 SCV004282127 pathogenic not provided 2023-07-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser351*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 865781). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005012534 SCV005632205 likely pathogenic Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2024-06-07 criteria provided, single submitter clinical testing

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