Submissions for variant NM_001282225.2(ADA2):c.927G>A (p.Met309Ile)

gnomAD frequency: 0.00156  dbSNP: rs146597836

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001083464	SCV000654983	likely benign	Vasculitis due to ADA2 deficiency	2024-01-25	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV000788291	SCV000927348	uncertain significance	not provided	2017-07-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000788291	SCV001153609	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ADA2: BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263671	SCV002542989	benign	Autoinflammatory syndrome	2022-03-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003970099	SCV004778697	likely benign	ADA2-related disorder	2020-03-05	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).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV003151053	SCV004848177	benign	not specified	2018-03-19	criteria provided, single submitter	clinical testing	The p.Met309Ile variant in ADA2 is classified as benign because of its high frequency of 0.61% in Ashkenazi Jewish chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs146597836). This variant is present in ClinVar (variant ID 361951). Computational prediction tools and conservation analysis suggest that the p.Met309Ile variant may not impact the protein. ACMG/AMP criteria applied: BA1, BP4.
Department of Immunology, Hospital Universitario Virgen del Rocio	RCV000416296	SCV000493703	pathogenic	Behcet disease	2017-01-13	no assertion criteria provided	case-control
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000788291	SCV001929405	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000788291	SCV001965634	likely benign	not provided		no assertion criteria provided	clinical testing
Genetic Services Laboratory, University of Chicago	RCV003151053	SCV003839304	likely benign	not specified	2022-02-16	no assertion criteria provided	clinical testing