ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.751C>T (p.Arg251Cys)

gnomAD frequency: 0.00004  dbSNP: rs781113955
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170442 SCV001333022 uncertain significance Cardiomyopathy 2019-03-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393380 SCV002669109 uncertain significance Cardiovascular phenotype 2021-07-01 criteria provided, single submitter clinical testing The p.R251C variant (also known as c.751C>T), located in coding exon 7 of the CASQ2 gene, results from a C to T substitution at nucleotide position 751. The arginine at codon 251 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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 RCV002558708 SCV003264893 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2022-01-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 251 of the CASQ2 protein (p.Arg251Cys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CASQ2-related conditions. ClinVar contains an entry for this variant (Variation ID: 915584). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Genome-Nilou Lab RCV003346346 SCV004050814 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

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