ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2125C>T (p.Gln709Ter)

gnomAD frequency: 0.00001  dbSNP: rs756258757
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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 RCV001237372 SCV001410129 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.Gln691*) 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. ClinVar contains an entry for this variant (Variation ID: 963357). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003469441 SCV004196505 pathogenic Miyoshi muscular dystrophy 1 2023-06-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005036518 SCV005659286 pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2024-02-22 criteria provided, single submitter clinical testing

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