ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.649dup (p.Ser217fs)

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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 RCV002801580 SCV003202807 pathogenic Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2022-08-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser217Lysfs*27) 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 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). For these reasons, this variant has been classified as Pathogenic.

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