ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1096_1097del (p.Lys366fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002648203 SCV003523903 pathogenic Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2022-02-28 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys366Glufs*8) 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 premature translational stop signal has been observed in individual(s) with dyschromatosis symmetrica hereditaria (PMID: 20439151). For these reasons, this variant has been classified as Pathogenic.

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