Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000822752 | SCV000963568 | pathogenic | Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 | 2022-08-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 664624). This premature translational stop signal has been observed in individual(s) with dyschromatosis symmetrica hereditaria (PMID: 25982145, 29536976). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys1122*) in the ADAR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADAR are known to be pathogenic (PMID: 22974014). |
MGZ Medical Genetics Center | RCV002290472 | SCV002580590 | likely pathogenic | Aicardi-Goutieres syndrome 6 | 2022-01-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002290472 | SCV004050324 | likely pathogenic | Aicardi-Goutieres syndrome 6 | 2023-04-11 | criteria provided, single submitter | clinical testing |