ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.803G>T (p.Arg268Leu) (rs769969149)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208126 SCV000264249 uncertain significance Primary dilated cardiomyopathy 2015-05-05 criteria provided, single submitter clinical testing
Invitae RCV000228901 SCV000290720 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 5 2016-01-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 268 of the TMEM43 protein (p.Arg268Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is present in population databases (rs769969149, ExAC 0.01%) but has not been reported in the literature in individuals with a TMEM43-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 C0"). In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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