ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3824G>A (p.Trp1275Ter)

gnomAD frequency: 0.00001  dbSNP: rs1553376538
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594208 SCV000704227 pathogenic not provided 2016-12-10 criteria provided, single submitter clinical testing
Invitae RCV003736833 SCV004482541 pathogenic Qualitative or quantitative defects of dysferlin 2023-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1257*) 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 dysferlinopathy (PMID: 32400077). ClinVar contains an entry for this variant (Variation ID: 498955). For these reasons, this variant has been classified as Pathogenic.

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