Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002561702 | SCV001380403 | uncertain significance | Blau syndrome; Regional enteritis | 2023-01-30 | 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 939565). This variant has not been reported in the literature in individuals affected with NOD2-related conditions. This variant is present in population databases (rs760623178, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg830*) in the NOD2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NOD2 cause disease. |
Gene |
RCV001786450 | SCV002028572 | uncertain significance | not provided | 2021-05-26 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge |
Genome Diagnostics Laboratory, |
RCV002261304 | SCV002542698 | uncertain significance | Autoinflammatory syndrome | 2020-11-05 | criteria provided, single submitter | clinical testing |