ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12887A>C (p.His4296Pro)

gnomAD frequency: 0.00001  dbSNP: rs1695398009
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002561231 SCV001377941 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2022-12-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 937585). This variant has not been reported in the literature in individuals affected with RYR2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 4296 of the RYR2 protein (p.His4296Pro). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RYR2 protein function.

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