ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5025_5053dup (p.Thr1685delinsIleCysLeuTrpArgArgThrTer)

dbSNP: rs2152950672
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001939577 SCV002235089 pathogenic Qualitative or quantitative defects of dysferlin 2021-02-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1646Ilefs*8) in the DYSF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DYSF-related conditions. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004571722 SCV005060286 likely pathogenic Miyoshi muscular dystrophy 1 2024-01-01 criteria provided, single submitter clinical testing

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