Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000598181 | SCV000706737 | uncertain significance | not provided | 2017-03-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000810621 | SCV000950841 | benign | Alagille syndrome due to a JAG1 point mutation | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002325129 | SCV002606696 | uncertain significance | Cardiovascular phenotype | 2022-03-19 | criteria provided, single submitter | clinical testing | The p.R1116W variant (also known as c.3346C>T), located in coding exon 26 of the JAG1 gene, results from a C to T substitution at nucleotide position 3346. The arginine at codon 1116 is replaced by tryptophan, an amino acid with dissimilar 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. |
Prevention |
RCV003927929 | SCV004743279 | uncertain significance | JAG1-related condition | 2024-01-31 | criteria provided, single submitter | clinical testing | The JAG1 c.3346C>T variant is predicted to result in the amino acid substitution p.Arg1116Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.032% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |