ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7997T>A (p.Leu2666Gln)

gnomAD frequency: 0.00001  dbSNP: rs770139747
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002419102 SCV002678595 uncertain significance Cardiovascular phenotype 2021-09-13 criteria provided, single submitter clinical testing The p.L2666Q variant (also known as c.7997T>A), located in coding exon 53 of the RYR2 gene, results from a T to A substitution at nucleotide position 7997. The leucine at codon 2666 is replaced by glutamine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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