ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4954del (p.Ser1652fs)

dbSNP: rs772270346
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385077 SCV001584788 pathogenic Qualitative or quantitative defects of dysferlin 2024-02-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1613Valfs*21) 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 present in population databases (rs772270346, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 1072386). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003463002 SCV004196528 likely pathogenic Miyoshi muscular dystrophy 1 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005023145 SCV005659326 likely pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2024-06-24 criteria provided, single submitter clinical testing

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