ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6455A>G (p.Asn2152Ser) (rs752288991)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182742 SCV000235127 uncertain significance not provided 2015-04-03 criteria provided, single submitter clinical testing This variant is denoted c.6455 A>G p.Asn2152Ser (N2152S) NM_001035.2. The N2152S variant has not been published as a mutation or as a benign polymorphism to our knowledge. The N2152S variant was not observed in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is completely conserved across species. Furthermore, in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the N2152S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, no missense mutations in nearby residues have been reported in association with RYR2-related disorders, indicating that 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 ARRHYTHMIA panel(s).

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