Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001854631 | SCV002290968 | uncertain significance | not provided | 2023-10-05 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 360 of the JAK1 protein (p.Arg360Trp). This variant is present in population databases (rs200049537, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with JAK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 134549). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Fulgent Genetics, |
RCV002492428 | SCV002789090 | uncertain significance | Autoinflammation, immune dysregulation, and eosinophilia | 2022-05-07 | criteria provided, single submitter | clinical testing | |
| ITMI | RCV000121238 | SCV000085409 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |