ClinVar Miner

Submissions for variant NM_000445.5(PLEC):c.6394_6395delinsAT (p.Ala2132Met) (rs886044784)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724989 SCV000333000 uncertain significance not provided 2015-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000291027 SCV000571417 likely benign not specified 2016-08-31 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 RCV000529437 SCV000650370 uncertain significance Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces alanine with methionine at codon 2132 of the PLEC protein (p.Ala2132Met). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and methionine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a PLEC-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class 0"). In summary, this variant is a novel missense change with uncertain impact on protein function. Therefore, it has been classified as a Variant of Uncertain Significance.

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