ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter)

dbSNP: rs121965083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002512985 SCV003439853 pathogenic not provided 2022-04-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys628*) 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 premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 9843659). ClinVar contains an entry for this variant (Variation ID: 11858). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012633 SCV000032868 pathogenic Usher syndrome type 1B 1998-12-01 no assertion criteria provided literature only

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