ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1965C>A (p.Tyr655Ter)

dbSNP: rs759841019
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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 RCV001038949 SCV001202451 pathogenic Qualitative or quantitative defects of dysferlin 2025-01-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr637*) 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 premature translational stop signal has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 17994539). ClinVar contains an entry for this variant (Variation ID: 837580). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005029589 SCV005659284 pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2024-02-21 criteria provided, single submitter clinical testing

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