ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2923C>T (p.Gln975Ter)

gnomAD frequency: 0.00001  dbSNP: rs398123776
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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) RCV000356683 SCV000331439 pathogenic not provided 2013-06-19 criteria provided, single submitter clinical testing
Invitae RCV001854415 SCV002239080 pathogenic Qualitative or quantitative defects of dysferlin 2021-05-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with dysferlinopathy (PMID: 26444858). ClinVar contains an entry for this variant (Variation ID: 94295). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln957*) 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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