ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.169G>A (p.Ala57Thr) (rs151010429)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620642 SCV000734932 uncertain significance Cardiovascular phenotype 2017-10-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172115 SCV000051062 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000074479 SCV000290715 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 5 2015-11-23 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 57 of the TMEM43 protein (p.Ala57Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs151010429, ExAC 0.009%). This variant has been reported in an individual affected with ARVC (PMID: 23812740). Currently there is insufficient evidence to conclude whether this variant segregates with disease or not. ClinVar contains an entry for this variant (Variation ID: 88981). 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 C55"). However, the threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function In summary, this rare missense variant has been reported in the literature in a single individual with ARVC. However, there is insufficient evidence to indicate whether this is a pathogenic variant or a rare benign variant. For these reasons, this change has been classified as a Variant of Uncertain Significance.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845447 SCV000987532 uncertain significance Arrhythmogenic right ventricular cardiomyopathy criteria provided, single submitter clinical testing
OMIM RCV000074479 SCV000108563 pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 5 2013-11-01 no assertion criteria provided literature only

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