Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000805021 | SCV000944963 | pathogenic | Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 | 2023-04-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr856Aspfs*2) 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). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 649961). This premature translational stop signal has been observed in individual(s) with dyschromatosis symmetrica hereditaria (PMID: 18705826). |