ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.121A>G (p.Met41Val) (rs144334386)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172113 SCV000051060 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770178 SCV000901605 uncertain significance Cardiomyopathy 2017-05-10 criteria provided, single submitter clinical testing
Invitae RCV001047322 SCV001211272 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 5 2019-05-21 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 41 of the TMEM43 protein (p.Met41Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs144334386, ExAC 0.01%). This variant has been observed in an individual with family history of coronary artery disease and sudden death (PMID: 20435227). ClinVar contains an entry for this variant (Variation ID: 191780). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.
Color RCV000770178 SCV001359193 uncertain significance Cardiomyopathy 2018-12-14 criteria provided, single submitter clinical testing

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