ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.268G>C (p.Gly90Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002437354 SCV002745321 uncertain significance Cardiovascular phenotype 2021-06-18 criteria provided, single submitter clinical testing The p.G90R variant (also known as c.268G>C), located in coding exon 2 of the CASQ2 gene, results from a G to C substitution at nucleotide position 268. The glycine at codon 90 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003102116 SCV003453313 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2022-03-05 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. 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 expected to disrupt CASQ2 protein function. This variant has not been reported in the literature in individuals affected with CASQ2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 90 of the CASQ2 protein (p.Gly90Arg).
Genome-Nilou Lab RCV003340492 SCV004048966 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

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