ClinVar Miner

Submissions for variant NM_001282225.2(ADA2):c.1386T>C (p.Ile462=)

gnomAD frequency: 0.00051  dbSNP: rs373797039
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532561 SCV000654979 likely benign Vasculitis due to ADA2 deficiency 2024-01-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263798 SCV002543368 uncertain significance Autoinflammatory syndrome 2020-07-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003431109 SCV004152062 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing ADA2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003952860 SCV004780233 likely benign ADA2-related disorder 2022-02-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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