ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.10024G>C (p.Ala3342Pro) (rs779445295)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182884 SCV000235272 uncertain significance not provided 2017-08-17 criteria provided, single submitter clinical testing This variant is denoted Ala3342Pro (aka A3342P) at the protein level and c.10024 G>C at the cDNA level. The Ala3342Pro variant in the RYR2 gene has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. Ala3342Pro results in a conservative amino acid substitution of one non-polar amino acid for another at a position that is not well conserved across species throughout evolution. In addition, no mutations in nearby residues have been reported in association with CPVT, indicating this region of the protein may be tolerant of change. However, according to the NHLBI ESP Exome Variant Server, Ala3342Pro was not observed in approximately 4,500 individuals from European and African American backgrounds, indicating that it is not a common sequence variant in these populations. In summary, the clinical significance of the Ala3342Pro variant is unclear at this time. The variant is found in CPVT panel(s).

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