ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.8704C>T (p.Arg2902Trp)

gnomAD frequency: 0.00004  dbSNP: rs367949674
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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 RCV001230354 SCV001402830 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 2023-04-10 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 957385). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs367949674, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 2929 of the PLEC protein (p.Arg2929Trp).
Revvity Omics, Revvity RCV003130203 SCV003817217 uncertain significance not provided 2023-03-02 criteria provided, single submitter clinical testing

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