Submissions for variant NM_001130987.2(DYSF):c.2924_2928del (p.Gln975fs)

dbSNP: rs398123777

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176737	SCV000228445	pathogenic	not provided	2013-04-08	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003466983	SCV004194579	pathogenic	Miyoshi muscular dystrophy 1	2021-11-24	criteria provided, single submitter	clinical testing
Invitae	RCV003736571	SCV004540532	pathogenic	Qualitative or quantitative defects of dysferlin	2023-08-29	criteria provided, single submitter	clinical testing	This variant is present in population databases (rs768896420, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Gln957Profs*12) 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 premature translational stop signal has been observed in individual(s) with neuromuscular conditions (PMID: 29382405, 32576226, 33613410). ClinVar contains an entry for this variant (Variation ID: 94296). For these reasons, this variant has been classified as Pathogenic.
Department of Neurology, Guangzhou First People’s Hospital, School of Medicine, South China University of Technology	RCV000176737	SCV001244908	pathogenic	not provided	2019-07-01	no assertion criteria provided	reference population