ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8792G>T (p.Arg2931Leu)

gnomAD frequency: 0.00001  dbSNP: rs905226907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002541923 SCV001489423 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2022-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002375361 SCV002687879 uncertain significance Cardiovascular phenotype 2020-02-26 criteria provided, single submitter clinical testing The p.R2931L variant (also known as c.8792G>T), located in coding exon 60 of the RYR2 gene, results from a G to T substitution at nucleotide position 8792. The arginine at codon 2931 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is not 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.

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