ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.10488T>G (p.Phe3496Leu) (rs794728768)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182784 SCV000235170 uncertain significance not provided 2013-06-04 criteria provided, single submitter clinical testing p.Phe3496Leu (TTT>TTG): c.10488 T>G in exon 72 of the RYR2 gene (NM_001035.2). The Phe3496Leu variant in the RYR2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Phe3496Leu results in a conservative amino acid substitution of one non-polar amino acid with another at a position that is conserved across species. The Phe3496Leu variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Nevertheless, no mutations in nearby residues have been reported in association with CPVT, indicating this region of the protein may be tolerant of change. Also, in silico analysis predicts Phe3496Leu is benign to the protein structure/function. We cannot definitively determine if Phe3496Leu is disease-causing mutations or a rare benign variants. The variant is found in CPVT panel(s).

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