Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002262098 | SCV002542407 | uncertain significance | Autoinflammatory syndrome | 2021-12-23 | criteria provided, single submitter | clinical testing | |
Neuberg Centre For Genomic Medicine, |
RCV003448454 | SCV004176559 | uncertain significance | Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 2023-02-14 | criteria provided, single submitter | clinical testing | The missense c.2828A>T(p.Asn943Ile) variant in NLRC4 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Asn943Ile variant is novel (not in any individuals) in both gnomAD Exomes and 1000 Genomes databases. This variant has been reported to the ClinVar database as Uncertain Significance. The amino acid change p.Asn943Ile in NLRC4 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Asn at position 943 is changed to a Ile changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS). |