ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.4117C>T (p.Arg1373Trp)

gnomAD frequency: 0.00001  dbSNP: rs782378494
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493043 SCV000582062 likely benign not specified 2018-01-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000727166 SCV000706307 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
Invitae RCV001202176 SCV001373281 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 2019-08-09 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with PLEC-related conditions. ClinVar contains an entry for this variant (Variation ID: 429481). This variant is present in population databases (rs782378494, ExAC 0.007%). This sequence change replaces arginine with tryptophan at codon 1400 of the PLEC protein (p.Arg1400Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan.

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