ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3284G>A (p.Trp1095Ter)

dbSNP: rs794727534
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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) RCV000177464 SCV000229323 pathogenic not provided 2014-11-20 criteria provided, single submitter clinical testing
Invitae RCV001852191 SCV002188557 pathogenic Qualitative or quantitative defects of dysferlin 2021-09-29 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 196625). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp1077*) 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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