Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001138113 | SCV001298143 | likely benign | Isolated Nonsyndromic Congenital Heart Disease | 2018-01-13 | 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
| Labcorp Genetics |
RCV001856763 | SCV002204573 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2023-08-24 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002320371 | SCV002610143 | uncertain significance | Cardiovascular phenotype | 2022-01-02 | criteria provided, single submitter | clinical testing | The p.V1052I variant (also known as c.3154G>A), located in coding exon 25 of the JAG1 gene, results from a G to A substitution at nucleotide position 3154. The valine at codon 1052 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |