ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.19G>A (p.Gly7Ser) (rs779910353)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182770 SCV000235156 uncertain significance not provided 2014-03-25 criteria provided, single submitter clinical testing p.Gly7Ser (GGC>AGC): c.19 G>A in exon 1 of the RYR2 gene (NM_001035.2). To our knowledge, the G7S variant has not been published as a mutation or as a benign polymorphism. The G7S variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G7S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is possibly damaging to the protein structure/function. However, missense mutations in nearby residues have not been reported in association with arrhythmia, suggesting this region of the protein may be tolerant to change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in ARRHYTHMIA panel(s).

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