Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729751 | SCV000857438 | uncertain significance | not provided | 2018-05-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001245527 | SCV001418821 | uncertain significance | Alagille syndrome due to a JAG1 point mutation | 2023-11-01 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 509 of the JAG1 protein (p.Phe509Leu). This variant is present in population databases (rs770377023, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with JAG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 594458). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt JAG1 protein function with a positive predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Revvity Omics, |
RCV000729751 | SCV003813887 | uncertain significance | not provided | 2019-10-18 | criteria provided, single submitter | clinical testing |