ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000262612 SCV000788615 pathogenic Limb-girdle muscular dystrophy, type 2B 2017-04-28 criteria provided, single submitter clinical testing
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; Limb-girdle muscular dystrophy, type 2B; Myopathy, distal, with anterior tibial onset 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000791498 SCV000930750 likely pathogenic Dysferlinopathy 2018-08-06 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). 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"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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