Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001209633 | SCV001381078 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411771 | SCV002716972 | uncertain significance | Cardiovascular phenotype | 2022-02-20 | criteria provided, single submitter | clinical testing | The p.K612R variant (also known as c.1835A>G), located in coding exon 14 of the JAG1 gene, results from an A to G substitution at nucleotide position 1835. The lysine at codon 612 is replaced by arginine, an amino acid with highly 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. |
Fulgent Genetics, |
RCV002484135 | SCV002787296 | 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 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004548060 | SCV004717089 | uncertain significance | JAG1-related disorder | 2023-11-22 | criteria provided, single submitter | clinical testing | The JAG1 c.1835A>G variant is predicted to result in the amino acid substitution p.Lys612Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-10627637-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |