Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001151110 | SCV001312213 | uncertain significance | Cardiac arrhythmia, ankyrin-B-related | 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. |
| Ambry Genetics | RCV003162452 | SCV003875770 | uncertain significance | Cardiovascular phenotype | 2023-02-16 | criteria provided, single submitter | clinical testing | The p.G475R variant (also known as c.1423G>A), located in coding exon 14 of the ANK2 gene, results from a G to A substitution at nucleotide position 1423. The glycine at codon 475 is replaced by arginine, an amino acid with dissimilar properties. This variant was reported in a torsades des pointes cohort; however, clinical details were limited (Mank-Seymour AR et al. Am. Heart J., 2006 Dec;152:1116-22). 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. |
| Cardiovascular Biomedical Research Unit, |
RCV000058353 | SCV000089873 | not provided | Torsades de pointes | no assertion provided | literature only | This variant has been reported as associated with torsades de pointes in the following publications (PMID:17161064). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory. |