ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7025G>A (p.Gly2342Glu) (rs794728751)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182753 SCV000235138 likely pathogenic not provided 2014-09-30 criteria provided, single submitter clinical testing p.Gly2342Glu (GGG>GAG): c.7025 G>A in exon 46 of the RYR2 gene (NM_001035.2). The Gly2342Glu variant in the RYR2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Gly2342Glu results in a non-conservative amino acid substitution of a non-polar Glycine with a negatively charged Glutamic acid at a position that is conserved across species. In silico analysis predicts Gly2342Glu is probably damaging to the protein structure/function. Gly2342Glu is located in mutation hot spot region of the RYR2 gene, and mutations in nearby residues (Pro2331Ser, Arg2359Gln) have been reported in association with CPVT further supporting the functional importance of this region of the protein. Furthermore, the NHLBI ESP Exome Variant Server reports Gly2342Glu 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. In summary, while Gly2342Glu is a good candidate for a disease-causing mutation, with the clinical and molecular information available at this time we cannot unequivocally determine the clinical significance of this variant. The variant is found in CPVT,ARRHYTHMIA panel(s).

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