ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter) (rs116892396)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001390810 SCV001592658 pathogenic not provided 2020-05-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr108*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Usher syndrome (PMID: 28041643). ClinVar contains an entry for this variant (Variation ID: 438176). Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). For these reasons, this variant has been classified as Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504875 SCV000599119 likely pathogenic Usher syndrome 2015-01-01 no assertion criteria provided research

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