ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.1159A>G (p.Ile387Val)

dbSNP: rs541565919
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774157 SCV000907858 uncertain significance Cardiomyopathy 2020-04-15 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with valine at codon 387 of the TMEM43 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, 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 been identified in 7/251340 chromosomes 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000808938 SCV000949071 uncertain significance Arrhythmogenic right ventricular dysplasia 5 2023-08-03 criteria provided, single submitter clinical testing 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. 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 not expected to disrupt TMEM43 protein function. ClinVar contains an entry for this variant (Variation ID: 629450). This variant has not been reported in the literature in individuals affected with TMEM43-related conditions. This variant is present in population databases (rs541565919, gnomAD 0.02%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 387 of the TMEM43 protein (p.Ile387Val).
GeneDx RCV002061084 SCV002496286 uncertain significance not provided 2022-03-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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