ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6265C>T (p.His2089Tyr) (rs1057524513)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429254 SCV000535760 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing The H2089Y variant in the RYR2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The H2089Y variant was not observed in approximately 6100 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 H2089Y 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 and is located within the cytoplasmic topological domain. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret H2089Y as a variant of uncertain significance, which may be related to the syncope reported in this individual.

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