ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.410G>C (p.Gly137Ala) (rs760628106)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183954 SCV000236447 uncertain significance not provided 2013-11-25 criteria provided, single submitter clinical testing p.Gly137Ala (GGG>GCG): c.410 G>C in exon 5 of the TMEM43 gene (NM_024334.2). The Gly137Ala variant in the TMEM43 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The Gly137Ala variant is a conservative amino substitution as these residues share similar properties, and are least likely to impact secondary structure, and the Gly137 residue is not conserved across evolution. However, in silico analysis predicts Gly137Ala is probably damaging to the protein structure/function. A mutation affected a nearby residue (Glu142Lys) has been reported in association with ARVC, supporting the functional importance of this region of the protein. The Gly137Ala 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. With the clinical and molecular information available at this time, we cannot definitively determine if Gly137Ala is a disease-causing mutation or a rare benign variant. The variant is found in ARRHYTHMIA panel(s).

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