ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.94C>A (p.Gln32Lys)

dbSNP: rs1553373926
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001089524 SCV000760667 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2019-12-11 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with catecholaminergic polymorphic ventricular tachycardia (PMID: 28237968). ClinVar contains an entry for this variant (Variation ID: 532378). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with lysine at codon 32 of the RYR2 protein (p.Gln32Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and lysine.
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001089524 SCV001244877 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2019-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377396 SCV002688224 uncertain significance Cardiovascular phenotype 2019-01-16 criteria provided, single submitter clinical testing The p.Q32K variant (also known as c.94C>A), located in coding exon 2 of the RYR2 gene, results from a C to A substitution at nucleotide position 94. The glutamine at codon 32 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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