ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) (rs202218890)

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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 RCV000725415 SCV000336807 pathogenic not provided 2015-11-10 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763505 SCV000894295 pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Myopathy, distal, with anterior tibial onset 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000791498 SCV000930750 pathogenic Qualitative or quantitative defects of dysferlin 2019-10-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 959 of the DYSF protein (p.Arg959Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs202218890, ExAC 0.01%). This variant has been reported in individuals affected with limb-girdle muscular dystrophy and Myoshi myopathy. It has been shown to segregate with disease in two families (PMID: 14678801, 22194990, 19528035, 16934466, 17070050, 21522182). ClinVar contains an entry for this variant (Variation ID: 284254). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000725415 SCV001247518 pathogenic not provided 2019-12-01 criteria provided, single submitter clinical testing
Counsyl RCV000262612 SCV000788615 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-04-28 no assertion criteria provided clinical testing

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