ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.1115G>A (p.Arg372Gln) (rs749140979)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183946 SCV000236438 uncertain significance not provided 2013-10-11 criteria provided, single submitter clinical testing p.Arg372Gln (CGA>CAA): c.1115 G>A in exon 12 of the TMEM43 gene (NM_024334.2). The Arg372Gln variant in the TMEM43 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Arg372Gln results in a semi-conservative amino acid substitution of a positively charged Arginine residue with a neutral, polar Glutamine residue. In silico analysis predicts Arg372Gln is probably damaging to the protein structure/function. The Arg372Gln variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. However, no mutations affecting nearby residues have been reported in association with ARVC, indicating this region of the protein may be tolerant of change. With the clinical and molecular information available at this time, we cannot definitively determine if Arg372Gln is a disease-causing mutation or a rare benign variant. The variant is found in ARVC panel(s).

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