Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001234479 | SCV001407129 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2022-09-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002322124 | SCV002611136 | uncertain significance | Cardiovascular phenotype | 2022-03-21 | criteria provided, single submitter | clinical testing | The p.T1087M variant (also known as c.3260C>T), located in coding exon 26 of the JAG1 gene, results from a C to T substitution at nucleotide position 3260. The threonine at codon 1087 is replaced by methionine, 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. |