ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.1171C>T (p.Arg391Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813254 SCV000953605 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 5 2018-07-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 391 of the TMEM43 protein (p.Arg391Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TMEM43-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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