ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9125C>A (p.Ala3042Glu) (rs794728762)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182774 SCV000235160 uncertain significance not provided 2017-05-12 criteria provided, single submitter clinical testing p.Ala3042Glu (GCA>GAA): c.9125 C>A in exon 64 of the RYR2 gene (NM_001035.2). The A3042E variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The A3042E variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A3042E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analysis predicts this variant is probably damaging to the protein structure/function. This substitution occurs at a position that is moderately conserved across species. However, missense mutations in nearby residues have not been reported, indicating this region of the protein may tolerate change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in ARRHYTHMIA,CARDIOMYOPATHY panel(s).

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