ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7378T>C (p.Phe2460Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003297620 SCV004009338 uncertain significance Cardiovascular phenotype 2023-05-10 criteria provided, single submitter clinical testing The p.F2460L variant (also known as c.7378T>C), located in coding exon 49 of the RYR2 gene, results from a T to C substitution at nucleotide position 7378. The phenylalanine at codon 2460 is replaced by leucine, an amino acid with highly similar properties. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003481484 SCV004224831 uncertain significance not provided 2022-04-28 criteria provided, single submitter clinical testing PP3, PM2

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