Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001064228 | SCV001229114 | uncertain significance | Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 | 2019-12-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln219*) in the NLRC4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs762280260, ExAC 0.001%). This variant has not been reported in the literature in individuals with NLRC4-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NLRC4 cause disease. 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. |
Genome Diagnostics Laboratory, |
RCV002264171 | SCV002542425 | uncertain significance | Autoinflammatory syndrome | 2021-10-09 | criteria provided, single submitter | clinical testing |