Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001351919 | SCV001546433 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002322306 | SCV002611262 | uncertain significance | Cardiovascular phenotype | 2022-03-04 | criteria provided, single submitter | clinical testing | The p.N1110S variant (also known as c.3329A>G), located in coding exon 26 of the JAG1 gene, results from an A to G substitution at nucleotide position 3329. The asparagine at codon 1110 is replaced by serine, 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. |
Fulgent Genetics, |
RCV002486458 | SCV002793973 | uncertain significance | Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH | 2022-05-20 | criteria provided, single submitter | clinical testing |