ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.757C>T (p.Gln253Ter)

dbSNP: rs886044381
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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) RCV000597870 SCV000701426 pathogenic not provided 2016-08-08 criteria provided, single submitter clinical testing
Invitae RCV002519337 SCV003309109 pathogenic Qualitative or quantitative defects of dysferlin 2022-02-01 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln221*) 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 has not been reported in the literature in individuals affected with DYSF-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 290209).

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