ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5938A>T (p.Lys1980Ter)

dbSNP: rs1553420738
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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) RCV000594534 SCV000707248 pathogenic not provided 2017-03-28 criteria provided, single submitter clinical testing
Invitae RCV000798409 SCV000938026 pathogenic Qualitative or quantitative defects of dysferlin 2023-07-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1941*) 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: 501036). For these reasons, this variant has been classified as Pathogenic.

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