ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.296dup (p.Arg100fs)

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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 RCV002999631 SCV003296068 pathogenic Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2022-02-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ADAR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly100Argfs*25) 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).

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