Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734571 | SCV000862723 | uncertain significance | not provided | 2018-07-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001417396 | SCV001619596 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002406672 | SCV002723384 | uncertain significance | Cardiovascular phenotype | 2021-07-18 | criteria provided, single submitter | clinical testing | The p.T622M variant (also known as c.1865C>T), located in coding exon 14 of the JAG1 gene, results from a C to T substitution at nucleotide position 1865. The threonine at codon 622 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |