ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.796G>T (p.Ala266Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002412390 SCV002675765 uncertain significance Cardiovascular phenotype 2022-08-11 criteria provided, single submitter clinical testing The p.A266S variant (also known as c.796G>T), located in coding exon 11 of the RYR2 gene, results from a G to T substitution at nucleotide position 796. The alanine at codon 266 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003526166 SCV004266531 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-04-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005760 SCV004824146 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2023-03-04 criteria provided, single submitter clinical testing

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