ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.301A>G (p.Met101Val) (rs754323182)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182654 SCV000235032 uncertain significance not provided 2012-12-28 criteria provided, single submitter clinical testing p.Met101Val (ATG>GTG): c.301 A>G in exon 5 of the RYR2 gene (NM_001035.2). The Met101Val variant in the RYR2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Met101Val results in a conservative amino acid substitution of one non polar amino acid with another at a position that is conserved in mammals. Met101Val is located in the N-terminal domain of the RYR2 gene, which is a mutation hot spot" region (Medeiros-Domingo A et al., 2009). The NHLBI ESP Exome Variant Server reports Met101Val 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, in silico analysis predicts Met101Val is benign to the protein structure/function. With the clinical and molecular information available at this time, we cannot definitively determine if Met101Val is a disease-causing mutation or a rare benign variant. The variant is found in CPVT panel(s)."

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