ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13948A>G (p.Lys4650Glu)

dbSNP: rs1271614960
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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 RCV004521065 SCV005037081 uncertain significance Cardiovascular phenotype 2023-12-06 criteria provided, single submitter clinical testing The p.K4650E variant (also known as c.13948A>G), located in coding exon 96 of the RYR2 gene, results from an A to G substitution at nucleotide position 13948. The lysine at codon 4650 is replaced by glutamic acid, an amino acid with similar properties. This variant has been detected in an adolescent with aborted sudden cardiac death who was subsequently, reportedly, diagnosed with catecholaminergic polymorphic ventricular tachycardia (Hofman N et al. Pediatrics, 2007 Oct;120:e967-73; Kapplinger JD et al. Circ Genom Precis Med. 2018 Feb;11(2):e001424). This amino acid position is highly 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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