Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001932753 | SCV002168222 | uncertain significance | TNF receptor-associated periodic fever syndrome (TRAPS) | 2021-06-08 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with TNFRSF1A-related conditions. This variant is present in population databases (rs561674960, ExAC 0.02%). This sequence change replaces arginine with leucine at codon 409 of the TNFRSF1A protein (p.Arg409Leu). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and leucine. |
Genome Diagnostics Laboratory, |
RCV002264422 | SCV002543082 | uncertain significance | Autoinflammatory syndrome | 2020-09-17 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003493888 | SCV004243464 | uncertain significance | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing |