ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2750del (p.Glu917fs)

dbSNP: rs1591378140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988607 SCV001138386 pathogenic Autosomal recessive nonsyndromic hearing loss 2 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001869356 SCV002230554 pathogenic not provided 2023-07-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu917Glyfs*145) 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 variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 802707). For these reasons, this variant has been classified as Pathogenic.

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