ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11222T>C (p.Leu3741Pro) (rs794728772)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182793 SCV000235179 uncertain significance not provided 2012-12-28 criteria provided, single submitter clinical testing p.Leu3741Pro (CTA>CCA): c.11222 T>C in exon 81 of the RYR2 gene (NM_001035.2). The Leu3741Pro variant in the RYR2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Leu3741Pro results in a semi-conservative amino acid substitution resulting in a gain of a sterically constrained Proline residue at a position that is conserved across species. In silico analysis predicts Leu3741Pro is damaging to the protein structure/function. The NHLBI ESP Exome Variant Server reports Leu3741Pro was not observed in approximately 6,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Nevertheless, no mutations in nearby codons have been reported in association with CPVT, indicating this region of the protein may be tolerant of change. We cannot definitively determine if Leu3741Pro is a disease-causing mutation or a rare benign variant. The variant is found in CPVT panel(s).

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