ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.12406G>C (p.Val4136Leu)

dbSNP: rs749212061
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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 RCV000529280 SCV000660395 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 2022-08-16 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 478627). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs749212061, gnomAD 0.004%), including at least one homozygous and/or hemizygous individual. This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 4163 of the PLEC protein (p.Val4163Leu).
CeGaT Center for Human Genetics Tuebingen RCV003992330 SCV004811375 uncertain significance not provided 2024-03-01 criteria provided, single submitter clinical testing

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