ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.1178G>A (p.Arg393Gln)

gnomAD frequency: 0.00001  dbSNP: rs758037497
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001880831 SCV002141630 uncertain significance Arrhythmogenic right ventricular dysplasia 5 2024-12-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 393 of the TMEM43 protein (p.Arg393Gln). This variant is present in population databases (rs758037497, gnomAD 0.006%). This missense change has been observed in individual(s) with noncompaction cardiomyopathy (PMID: 30847666). ClinVar contains an entry for this variant (Variation ID: 1377783). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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