ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.8493_8494delinsCT (p.Arg2832Cys)

dbSNP: rs1822596497
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001228018 SCV001400399 uncertain significance Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2019-10-24 criteria provided, single submitter clinical testing 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: "Not Available"; Align-GVGD: "Class C35"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with PLEC-related conditions. This variant is reported as two separate entries in the ExAC population database (c.8574G>C, 0.0% and c.8575C>T, 0.002%). This sequence change replaces arginine with cysteine at codon 2859 of the PLEC protein (p.Arg2859Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.

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