ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6106C>T (p.Gln2036Ter)

dbSNP: rs1957842461
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263994 SCV001442092 likely pathogenic Usher syndrome type 1 2019-04-07 criteria provided, single submitter clinical testing
Invitae RCV002537664 SCV003234171 pathogenic not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2036*) 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: 983989). For these reasons, this variant has been classified as Pathogenic.

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