ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)

gnomAD frequency: 0.00001  dbSNP: rs28937581
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790765 SCV000228627 pathogenic not provided 2012-12-26 criteria provided, single submitter clinical testing
Counsyl RCV000176869 SCV000789206 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-01-24 criteria provided, single submitter clinical testing
Invitae RCV001232546 SCV001405108 pathogenic Qualitative or quantitative defects of dysferlin 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 999 of the DYSF protein (p.Trp999Cys). This variant is present in population databases (rs28937581, gnomAD 0.02%). This missense change has been observed in individual(s) with dysferlinopathies (PMID: 12796534, 15293763, 22849992, 27363342, 27647186, 30366248). ClinVar contains an entry for this variant (Variation ID: 6674). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DYSF protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000007059 SCV004194159 pathogenic Miyoshi muscular dystrophy 1 2023-10-25 criteria provided, single submitter clinical testing
OMIM RCV000007059 SCV000027255 pathogenic Miyoshi muscular dystrophy 1 2003-06-10 no assertion criteria provided literature only
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea RCV000176869 SCV000882776 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-02-11 no assertion criteria provided research The proband has another variant, NM_003494.3: c.779C>G (p.Pro260Arg).
GeneReviews RCV000007059 SCV001981613 not provided Miyoshi muscular dystrophy 1 no assertion provided literature only Common variant assoc with milder form
Natera, Inc. RCV000176869 SCV002082252 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-12-31 no assertion criteria provided clinical testing

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