ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.361A>G (p.Met121Val) (rs369878538)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543086 SCV000642096 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 5 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 121 of the TMEM43 protein (p.Met121Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs369878538, ExAC 0.03%). This variant has not been reported in the literature in individuals with TMEM43-related disease. ClinVar contains an entry for this variant (Variation ID: 46143). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039382 SCV000063066 uncertain significance not specified 2009-01-22 no assertion criteria provided clinical testing

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