Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001224671 | SCV001396885 | uncertain significance | Cryopyrin associated periodic syndrome | 2021-11-22 | 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: 952546). This variant has not been reported in the literature in individuals affected with NLRP3-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects codon 190 of the NLRP3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NLRP3 protein. |
| Fulgent Genetics, |
RCV002484217 | SCV002799628 | uncertain significance | Chronic infantile neurological, cutaneous and articular syndrome; Keratitis fugax hereditaria; Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1; Hearing loss, autosomal dominant 34, with or without inflammation | 2022-02-17 | criteria provided, single submitter | clinical testing |