ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.11299G>A (p.Ala3767Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003134971 SCV003816710 uncertain significance not provided 2020-12-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003134971 SCV004184752 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003778749 SCV004610239 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 2022-12-02 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. This missense change has been observed in individual(s) with PLEC-related conditions (PMID: 27234031). This variant is present in population databases (rs782235531, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3794 of the PLEC protein (p.Ala3794Thr).

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