Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002262105 | SCV002542422 | uncertain significance | Autoinflammatory syndrome | 2021-06-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003774823 | SCV004605067 | uncertain significance | Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 | 2023-04-09 | 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 create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1694383). This variant has not been reported in the literature in individuals affected with NLRC4-related conditions. This variant is present in population databases (rs542279142, gnomAD 0.003%). This sequence change affects codon 199 of the NLRC4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NLRC4 protein. |