ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11018G>A (p.Arg3673Gln) (rs778111237)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182790 SCV000235176 uncertain significance not provided 2014-05-09 criteria provided, single submitter clinical testing p.Arg3673Gln (CGG>CAG): c.11018 G>A in exon 78 of the RYR2 gene (NM_001035.2). The R3673Q variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The R3673Q variant was not observed in approximately 5,900 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 R3673Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, no missense mutations in nearby residues have been reported in association with disease, suggesting this region of the protein may be tolerant of 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 POSTMORTEM panel(s).

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