ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln)

gnomAD frequency: 0.00001  dbSNP: rs749547712
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002554554 SCV001233913 pathogenic Catecholaminergic polymorphic ventricular tachycardia 1 2023-09-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects CASQ2 function (PMID: 16601229, 17881003, 18469084, 18583715, 20353949, 21063088, 21265816). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CASQ2 protein function. ClinVar contains an entry for this variant (Variation ID: 862119). This missense change has been observed in individuals with catecholaminergic polymorphic ventricular tachycardia (PMID: 16601229, 31482657, 32693635). This variant is present in population databases (rs749547712, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 33 of the CASQ2 protein (p.Arg33Gln).
Fulgent Genetics, Fulgent Genetics RCV002505654 SCV002815671 likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 2 2021-09-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003339457 SCV004048992 likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

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