ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3842dup (p.Ser1282fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003467879 SCV004192232 likely pathogenic Miyoshi muscular dystrophy 1 2023-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003738464 SCV004484797 pathogenic Qualitative or quantitative defects of dysferlin 2024-02-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1264Glnfs*12) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. For these reasons, this variant has been classified as Pathogenic.

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