ClinVar Miner

Submissions for variant NM_001282225.2(ADA2):c.137dup (p.Arg49fs)

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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 RCV002597026 SCV002941422 pathogenic Vasculitis due to ADA2 deficiency 2022-01-22 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Arg49Alafs*13) in the ADA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADA2 are known to be pathogenic (PMID: 24552284, 24552285). This premature translational stop signal has been observed in individual(s) with ADA2 deficiency and/or suspected primary immunodeficiency (PMID: 27514238, 32888943). For these reasons, this variant has been classified as Pathogenic.

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