Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000213801 | SCV000271535 | uncertain significance | not specified | 2015-04-03 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Ala292Ser in CASQ2 has not been reported in individuals with cardiomopathy, but has been repo rted in 0.2% (13/6602) of Finnish chromosomes by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org; dbSNP rs200643387). Computational predi ction tools and conservation analysis do not provide strong support for or again st and impact to the protein. In summary, while the clinical significance of the p.Ala292Ser variant is uncertain, its frequency suggests that it is more likely to be benign. |
| Illumina Laboratory Services, |
RCV001093808 | SCV000347678 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 2 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Invitae | RCV002517534 | SCV001132022 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002372226 | SCV002685858 | uncertain significance | Cardiovascular phenotype | 2022-04-12 | criteria provided, single submitter | clinical testing | The p.A292S variant (also known as c.874G>T), located in coding exon 9 of the CASQ2 gene, results from a G to T substitution at nucleotide position 874. The alanine at codon 292 is replaced by serine, an amino acid with similar properties. This alteration has been reported in a sudden cardiac death with myocardial fibrosis cohort and a hypertrophic cardiomyopathy cohort (Junttila MJ et al. Circulation, 2018 06;137:2716-2726; Jääskeläinen P et al. ESC Heart Fail, 2019 Apr;6:436-445). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Dept of Medical Biology, |
RCV003318370 | SCV004022060 | uncertain significance | Long QT syndrome | 2024-01-08 | criteria provided, single submitter | research | Criteria: BS1, PP3 |