ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.517C>T (p.Gln173Ter)

dbSNP: rs782347270
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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. RCV001263713 SCV001441805 likely pathogenic Usher syndrome type 1 2019-03-16 criteria provided, single submitter clinical testing
Invitae RCV001880067 SCV002232167 pathogenic not provided 2021-04-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 983710). This variant is present in population databases (rs782347270, ExAC 0.006%). This sequence change creates a premature translational stop signal (p.Gln173*) 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).

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