ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter)

gnomAD frequency: 0.00001  dbSNP: rs781951909
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668486 SCV000793098 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-07-27 criteria provided, single submitter clinical testing
Invitae RCV002531200 SCV003440356 pathogenic not provided 2023-12-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln531*) 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 present in population databases (rs781951909, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 18181211). ClinVar contains an entry for this variant (Variation ID: 553105). For these reasons, this variant has been classified as Pathogenic.
University of Washington Center for Mendelian Genomics, University of Washington RCV001291470 SCV001479974 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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