ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter)

dbSNP: rs1571046959
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Total submissions: 3
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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-Nilou Lab RCV002290472 SCV004050324 likely pathogenic Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing

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