ClinVar Miner

Submissions for variant NM_000445.5(PLEC):c.12758C>T (p.Thr4253Met) (rs188341564)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000595415 SCV000701528 uncertain significance not provided 2017-04-25 criteria provided, single submitter clinical testing
Invitae RCV000542620 SCV000660350 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 2018-06-15 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 4253 of the PLEC protein (p.Thr4253Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs188341564, ExAC 0.1%). This variant has not been reported in the literature in individuals 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on PLEC function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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