ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.3194C>T (p.Ser1065Leu)

gnomAD frequency: 0.00001  dbSNP: rs782446699
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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 RCV001891438 SCV002159555 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 2022-08-18 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 C65"). ClinVar contains an entry for this variant (Variation ID: 1395644). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs782446699, gnomAD 0.07%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1092 of the PLEC protein (p.Ser1092Leu). 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.

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