ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.8845C>T (p.Arg2949Trp)

gnomAD frequency: 0.00026  dbSNP: rs202241157
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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) RCV000725398 SCV000336659 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000317893 SCV000714871 likely benign not specified 2018-01-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000648499 SCV000770319 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 2023-12-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 2976 of the PLEC protein (p.Arg2976Trp). This variant is present in population databases (rs202241157, 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: 281265). 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.
Ambry Genetics RCV002519086 SCV003685288 uncertain significance Inborn genetic diseases 2021-07-06 criteria provided, single submitter clinical testing The c.8926C>T (p.R2976W) alteration is located in exon 33 (coding exon 32) of the PLEC gene. This alteration results from a C to T substitution at nucleotide position 8926, causing the arginine (R) at amino acid position 2976 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000725398 SCV003817413 uncertain significance not provided 2023-10-17 criteria provided, single submitter clinical testing

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