ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.362T>G (p.Met121Arg)

dbSNP: rs1286177938
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049698 SCV001213765 uncertain significance Arrhythmogenic right ventricular dysplasia 5 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces methionine with arginine at codon 121 of the TMEM43 protein (p.Met121Arg). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with TMEM43-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 Diagnostics, LLC DBA Color Health RCV001181249 SCV001346349 uncertain significance Cardiomyopathy 2023-10-25 criteria provided, single submitter clinical testing This missense variant replaces methionine with arginine at codon 121 of the TMEM43 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 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.

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