Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001320714 | SCV001511510 | uncertain significance | Familial cold autoinflammatory syndrome 2 | 2023-03-10 | 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. ClinVar contains an entry for this variant (Variation ID: 1021028). This variant has not been reported in the literature in individuals affected with NLRP12-related conditions. This variant is present in population databases (rs768447330, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Met787Ilefs*45) in the NLRP12 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 NLRP12 cause disease. |
Centogene AG - |
RCV001320714 | SCV002059410 | likely pathogenic | Familial cold autoinflammatory syndrome 2 | 2018-06-21 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001320714 | SCV003815109 | likely pathogenic | Familial cold autoinflammatory syndrome 2 | 2022-02-21 | criteria provided, single submitter | clinical testing |