ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2707G>T (p.Glu903Ter)

dbSNP: rs770997582
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003736973 SCV004376244 pathogenic Qualitative or quantitative defects of dysferlin 2023-04-10 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: 869487). This premature translational stop signal has been observed in individual(s) with dysferlinopathy (PMID: 33613410). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu885*) 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).
Department of Neurology, Guangzhou First People’s Hospital, School of Medicine, South China University of Technology RCV001089588 SCV001244907 pathogenic not provided 2019-07-01 no assertion criteria provided reference population

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