Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000182794 | SCV000235180 | uncertain significance | not provided | 2012-09-13 | criteria provided, single submitter | clinical testing | p.Gln3742Pro (CAG>CCG): c.11225 A>C in exon 81 of the RYR2 gene (NM_001035.2). The Gln3742Pro variant in the RYR2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Gln3742Pro results in a non-conservative amino acid substitution of a polar Glutamine residue with a non-polar Proline residue at a position that is conserved in mammals. In silico analysis predicts Gln3742Pro is probably damaging to the protein structure/function. Additionally, the NHLBI ESP Exome Variant Server reports Gln3742Pro 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. We cannot definitively determine if Gln3742Pro is a disease-causing mutation or a rare benign variant. The variant is found in CPVT panel(s). |