ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.4333C>G (p.Arg1445Gly)

dbSNP: rs782018221
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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 RCV000648504 SCV000770324 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 2021-05-17 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with PLEC-related disease. This variant is present in population databases (rs782018221, ExAC 0.004%). This sequence change replaces arginine with glycine at codon 1472 of the PLEC protein (p.Arg1472Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine.

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