Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734924 | SCV000863104 | uncertain significance | not provided | 2018-08-24 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001340733 | SCV001534560 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2022-09-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002493364 | SCV002778188 | 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 | 2022-02-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004027097 | SCV005032987 | uncertain significance | Cardiovascular phenotype | 2023-11-27 | criteria provided, single submitter | clinical testing | The p.D1043N variant (also known as c.3127G>A), located in coding exon 25 of the JAG1 gene, results from a G to A substitution at nucleotide position 3127. The aspartic acid at codon 1043 is replaced by asparagine, 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. |