ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.355A>G (p.Ile119Val)

dbSNP: rs1477582479
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002541925 SCV001489455 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 119 of the RYR2 protein (p.Ile119Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RYR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1003725). 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 with a negative predictive value of 95%. 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.
Dept of Medical Biology, Uskudar University RCV003318399 SCV004021963 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM2, PP2

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