ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.2560G>A (p.Val854Met)

dbSNP: rs370464447
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729293 SCV000856940 uncertain significance not provided 2017-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000824123 SCV000965007 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 2024-11-27 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 881 of the PLEC protein (p.Val881Met). This variant is present in population databases (rs370464447, gnomAD 0.03%). 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: 594081). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt PLEC protein function with a negative predictive value of 80%. 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 RCV000729293 SCV003815621 uncertain significance not provided 2022-08-11 criteria provided, single submitter clinical testing
GeneDx RCV000729293 SCV003927495 uncertain significance not provided 2022-11-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004026971 SCV005006559 uncertain significance Inborn genetic diseases 2023-12-09 criteria provided, single submitter clinical testing The c.2641G>A (p.V881M) alteration is located in exon 22 (coding exon 21) of the PLEC gene. This alteration results from a G to A substitution at nucleotide position 2641, causing the valine (V) at amino acid position 881 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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