ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.485A>G (p.Asp162Gly)

dbSNP: rs1312639832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176183 SCV001340064 uncertain significance Cardiomyopathy 2023-08-09 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with glycine at codon 162 of the TMEM43 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV003769874 SCV004687737 uncertain significance Arrhythmogenic right ventricular dysplasia 5 2023-09-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TMEM43-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 162 of the TMEM43 protein (p.Asp162Gly). ClinVar contains an entry for this variant (Variation ID: 918528). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TMEM43 protein function. 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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