ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.8062G>A (p.Val2688Met)

gnomAD frequency: 0.00011  dbSNP: rs562229143
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529343 SCV000650430 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 2025-02-03 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 2715 of the PLEC protein (p.Val2715Met). This variant is present in population databases (rs562229143, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. ClinVar contains an entry for this variant (Variation ID: 471656). 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. 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 RCV003133346 SCV003811107 uncertain significance not provided 2021-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004955650 SCV005471571 uncertain significance Inborn genetic diseases 2024-09-12 criteria provided, single submitter clinical testing The c.8143G>A (p.V2715M) alteration is located in exon 33 (coding exon 32) of the PLEC gene. This alteration results from a G to A substitution at nucleotide position 8143, causing the valine (V) at amino acid position 2715 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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