ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr)

gnomAD frequency: 0.00011  dbSNP: rs200618217
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529959 SCV000650393 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 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2308 of the PLEC protein (p.Ala2308Thr). This variant is present in population databases (rs200618217, 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: 471637). 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.
GeneDx RCV000609012 SCV000725161 likely benign not specified 2017-11-30 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.
Eurofins Ntd Llc (ga) RCV000727816 SCV000855238 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000727816 SCV001879998 uncertain significance not provided 2020-09-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000727816 SCV004236128 uncertain significance not provided 2023-07-14 criteria provided, single submitter clinical testing

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