ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) (rs28937581)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 2019-11-12 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 999 of the DYSF protein (p.Trp999Cys). The tryptophan residue is moderately conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is present in population databases (rs28937581, ExAC 0.02%). This variant 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). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
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).

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