Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592427 | SCV000703338 | uncertain significance | not provided | 2017-11-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001039478 | SCV001203010 | benign | Alagille syndrome due to a JAG1 point mutation | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000592427 | SCV002007592 | uncertain significance | not provided | 2022-11-03 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002476291 | SCV002781843 | 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 | 2021-07-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003160015 | SCV003855099 | uncertain significance | Cardiovascular phenotype | 2023-01-14 | criteria provided, single submitter | clinical testing | The p.R7C variant (also known as c.19C>T), located in coding exon 1 of the JAG1 gene, results from a C to T substitution at nucleotide position 19. The arginine at codon 7 is replaced by cysteine, an amino acid with highly dissimilar 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. |