ClinVar Miner

Submissions for variant NM_000445.5(PLEC):c.4945C>T (p.Arg1649Trp) (rs781964004)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542528 SCV000650302 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 2017-05-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1649 of the PLEC protein (p.Arg1649Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. The frequency data for this variant (rs781964004) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. 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 (SIFT, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a missense change of unknown frequency with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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