ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3136dup (p.Leu1046fs)

dbSNP: rs1955319492
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001863165 SCV002238836 pathogenic not provided 2021-09-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 996717). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 18181211). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1046Profs*9) 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).
University of Washington Center for Mendelian Genomics, University of Washington RCV001291473 SCV001479977 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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