Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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. |