Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001141108 | SCV001301433 | benign | Isolated Nonsyndromic Congenital Heart Disease | 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
| Invitae | RCV002032346 | SCV002261877 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2023-07-18 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002451338 | SCV002739248 | uncertain significance | Cardiovascular phenotype | 2021-09-09 | criteria provided, single submitter | clinical testing | The p.R843W variant (also known as c.2527C>T), located in coding exon 21 of the JAG1 gene, results from a C to T substitution at nucleotide position 2527. The arginine at codon 843 is replaced by tryptophan, an amino acid with 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. |