ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.862C>G (p.Leu288Val)

gnomAD frequency: 0.00001  dbSNP: rs772096506
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002560573 SCV002202793 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2022-07-27 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 288 of the CASQ2 protein (p.Leu288Val). This variant is present in population databases (rs772096506, gnomAD 0.02%). 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: 1427813). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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.
Ambry Genetics RCV002370544 SCV002684210 uncertain significance Cardiovascular phenotype 2023-06-04 criteria provided, single submitter clinical testing The p.L288V variant (also known as c.862C>G), located in coding exon 9 of the CASQ2 gene, results from a C to G substitution at nucleotide position 862. The leucine at codon 288 is replaced by valine, an amino acid with highly similar properties. This variant has been detected in a whole exome sequencing cohort; however clinical details were limited (Landstrom AP et al. Circ Arrhythm Electrophysiol, 2017 Apr;10:). 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.
Genome-Nilou Lab RCV003348641 SCV004050803 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.