ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3279dup (p.Gly1094fs)

dbSNP: rs2545875886
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003049435 SCV003341558 pathogenic Qualitative or quantitative defects of dysferlin 2024-02-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1076Trpfs*38) 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 DYSF-related conditions (PMID: 36419651). ClinVar contains an entry for this variant (Variation ID: 2125160). For these reasons, this variant has been classified as Pathogenic.

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