Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728261 | SCV000855811 | uncertain significance | not provided | 2018-06-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001037675 | SCV001201099 | benign | Alagille syndrome due to a JAG1 point mutation | 2023-11-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442550 | SCV002732678 | uncertain significance | Cardiovascular phenotype | 2022-09-05 | criteria provided, single submitter | clinical testing | The p.N784D variant (also known as c.2350A>G), located in coding exon 19 of the JAG1 gene, results from an A to G substitution at nucleotide position 2350. The asparagine at codon 784 is replaced by aspartic acid, 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. |