ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2157G>A (p.Trp719Ter)

gnomAD frequency: 0.00001  dbSNP: rs1461201353
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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. RCV001263805 SCV001441898 likely pathogenic Usher syndrome type 1 2020-03-30 criteria provided, single submitter clinical testing
Invitae RCV002541613 SCV003003050 pathogenic not provided 2022-05-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Trp719*) 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). ClinVar contains an entry for this variant (Variation ID: 983802). For these reasons, this variant has been classified as Pathogenic.

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