ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.2863G>A (p.Glu955Lys)

dbSNP: rs1015204448
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001365561 SCV001561836 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 2020-09-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 982 of the PLEC protein (p.Glu982Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with PLEC-related conditions. This variant is not present in population databases (ExAC no frequency).
Revvity Omics, Revvity RCV003130505 SCV003809072 uncertain significance not provided 2023-10-23 criteria provided, single submitter clinical testing

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