ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4576G>T (p.Glu1526Ter)

dbSNP: rs886042635
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000299421 SCV000335591 pathogenic not provided 2015-09-22 criteria provided, single submitter clinical testing
Suma Genomics RCV001815304 SCV002062075 pathogenic Miyoshi muscular dystrophy 1 criteria provided, single submitter clinical testing
Invitae RCV003765605 SCV004634454 pathogenic Qualitative or quantitative defects of dysferlin 2023-05-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 283471). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1487*) 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).

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