ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11225A>C (p.Gln3742Pro) (rs794728773)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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).

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