Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002460916 | SCV002757338 | likely pathogenic | not provided | 2022-05-27 | criteria provided, single submitter | clinical testing | Identified as a heterozygous variant in patients reported to have Aicardi-Goutieres syndrome in published literature (Rice et al., 2007); Frameshift variant predicted to result in protein truncation, as the last 178 amino acids are replaced with 23 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20301648, 17846997, 18583934) |
Gene |
RCV000114326 | SCV000147892 | not provided | Aicardi-Goutieres syndrome 1 | no assertion provided | literature only |