ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.10831G>A (p.Gly3611Ser)

gnomAD frequency: 0.00002  dbSNP: rs201595670
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519893 SCV000618286 uncertain significance not provided 2017-10-17 criteria provided, single submitter clinical testing The G3638S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G3638S variant is observed in 10/111,278 (0.01%) alleles from individuals of European background (Lek et al., 2016). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, most reported pathogenic variants in the PLEC gene are truncating/loss-of-function.
Labcorp Genetics (formerly Invitae), Labcorp RCV001851499 SCV002129388 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 2022-07-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 449850). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs201595670, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 3638 of the PLEC protein (p.Gly3638Ser). 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. 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.
Revvity Omics, Revvity RCV000519893 SCV003817242 uncertain significance not provided 2021-12-17 criteria provided, single submitter clinical testing

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