Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002262121 | SCV002542464 | uncertain significance | Autoinflammatory syndrome | 2019-06-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003495268 | SCV004301011 | uncertain significance | Familial cold autoinflammatory syndrome 2 | 2023-11-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu59Hisfs*17) 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. This variant is present in population databases (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NLRP12-related conditions. ClinVar contains an entry for this variant (Variation ID: 1694399). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |