ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6683G>T (p.Gly2228Val) (rs794728744)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182745 SCV000235130 likely pathogenic not provided 2012-08-17 criteria provided, single submitter clinical testing c.6683 G>T p.Gly2228Val (G2228V) NM_001035.2. The G2228V variant in the RYR2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Although G2228V results in a conservative amino acid substitution of one non-polar amino acid with another, the Gly2228 position is highly conserved across species. Mutations in nearby residues (D2216V, H2217Y) have been reported in association with CPVT, further supporting the functional importance of this region of the protein. Furthermore, G2228V is located near the central domain in the RYR2 gene. The NHLBI ESP Exome Sequencing Project reports G2228V was not observed in approximately 5,400 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. The variant is found in CPVT panel(s).

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