Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001938935 | SCV002206362 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004041896 | SCV005033411 | uncertain significance | Cardiovascular phenotype | 2023-09-23 | criteria provided, single submitter | clinical testing | The p.A994T variant (also known as c.2980G>A), located in coding exon 24 of the JAG1 gene, results from a G to A substitution at nucleotide position 2980. The alanine at codon 994 is replaced by threonine, an amino acid with 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. |