ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5578A>T (p.Arg1860Ter)

dbSNP: rs2152955939
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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 RCV001962334 SCV002137261 pathogenic Qualitative or quantitative defects of dysferlin 2021-11-15 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1821*) 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 premature translational stop signal has been observed in individual(s) with miyoshi myopathy (PMID: 25591676). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004571456 SCV005060285 pathogenic Miyoshi muscular dystrophy 1 2024-01-02 criteria provided, single submitter clinical testing

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