Severe combined immunodeficiency due to adenosine deaminase deficiency: genes and variants
Explore variant evidence for Severe combined immunodeficiency due to adenosine deaminase deficiency across 1 analyzed protein (ADA). Linked ClinVar records include 44 pathogenic or likely pathogenic variants, 114 variants of uncertain significance and 4 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Severe combined immunodeficiency due to adenosine deaminase deficiency
ADA: Adenosine deaminase
It degrades adenosine and deoxyadenosine, preventing accumulation of metabolites that are particularly toxic to developing lymphocytes. Biallelic deficiency causes severe combined immunodeficiency, while partial deficiency can present later with immune dysfunction.
44 ClinVar pathogenic / likely pathogenic and 118 uncertain variants in ADA have source records linked to Severe combined immunodeficiency due to adenosine deaminase deficiency. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Severe combined immunodeficiency due to adenosine deaminase deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ADA R211H | 211 | Pathogenic / likely pathogenic (★★★) | |
| ADA R211C | 211 | Pathogenic / likely pathogenic (★★★) | |
| ADA R235W | 235 | Pathogenic / likely pathogenic (★★★) | |
| ADA S291L | 291 | Pathogenic / likely pathogenic (★★★) | |
| ADA P104L | 104 | Pathogenic / likely pathogenic (★★★) | |
| ADA G239D | 239 | Pathogenic / likely pathogenic (★★★) | |
| ADA P297L | 297 | Pathogenic / likely pathogenic (★★★) | |
| ADA R149W | 149 | Pathogenic / likely pathogenic (★★★) | |
| ADA G216R | 216 | Pathogenic / likely pathogenic (★★★) | |
| ADA L304R | 304 | Pathogenic / likely pathogenic (★★★) | |
| ADA R282Q | 282 | Pathogenic / likely pathogenic (★★★) | |
| ADA A329V | 329 | Pathogenic / likely pathogenic (★★★) | |
| ADA R101L | 101 | Pathogenic / likely pathogenic (★★) | |
| ADA V129M | 129 | Required for binding to DDP4 | Pathogenic / likely pathogenic (★★) |
| ADA R156L | 156 | Pathogenic / likely pathogenic (★★) | |
| ADA R156S | 156 | Pathogenic / likely pathogenic (★★) | |
| ADA H15D | 15 | Pathogenic / likely pathogenic (★★) | |
| ADA G74V | 74 | Pathogenic / likely pathogenic (★★) | |
| ADA R101Q | 101 | Pathogenic / likely pathogenic (★★) | |
| ADA R101W | 101 | Pathogenic / likely pathogenic (★★) | |
| ADA R156P | 156 | Pathogenic / likely pathogenic (★★) | |
| ADA R156H | 156 | Pathogenic / likely pathogenic (★★) | |
| ADA R156C | 156 | Pathogenic / likely pathogenic (★★) | |
| ADA R235Q | 235 | Pathogenic / likely pathogenic (★★) | |
| ADA H15L | 15 | Pathogenic / likely pathogenic (★★) | |
| ADA P126Q | 126 | Required for binding to DDP4 | Pathogenic / likely pathogenic (★★) |
| ADA V177M | 177 | Pathogenic / likely pathogenic (★★) | |
| ADA S291W | 291 | Pathogenic / likely pathogenic (★★) | |
| ADA G20R | 20 | Pathogenic / likely pathogenic (★★) | |
| ADA L107P | 107 | Pathogenic / likely pathogenic (★★) | |
| ADA R282L | 282 | Pathogenic / likely pathogenic (★★) | |
| ADA A83T | 83 | Pathogenic / likely pathogenic (★★) | |
| ADA A179D | 179 | Pathogenic / likely pathogenic (★★) | |
| ADA M1V | 1 | Pathogenic / likely pathogenic (★★) | |
| ADA H15P | 15 | Pathogenic / likely pathogenic (★) | |
| ADA R101G | 101 | Pathogenic / likely pathogenic (★) | |
| ADA V129L | 129 | Required for binding to DDP4 | Pathogenic / likely pathogenic (★) |
| ADA G74C | 74 | Pathogenic / likely pathogenic (★) | |
| ADA G74D | 74 | Pathogenic / likely pathogenic (★) | |
| ADA C154R | 154 | Pathogenic / likely pathogenic (★) | |
| ADA R211S | 211 | Pathogenic / likely pathogenic (★) | |
| ADA L106V | 106 | Pathogenic / likely pathogenic (★) | |
| ADA L152P | 152 | Pathogenic / likely pathogenic (★) | |
| ADA Y97C | 97 | Pathogenic / likely pathogenic |
Uncertain variants prioritized for review in Severe combined immunodeficiency due to adenosine deaminase deficiency
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| ADA R149L | 149 | Uncertain (★) | +7: 2 other pathogenic changes within 3 positions; R149W at the same position is pathogenic; seen in 7e-07 of gnomAD DNA copies; REVEL 0.958 | |
| ADA P297Q | 297 | Conflicting reports (★) | +6: in a 3D region that tolerates change poorly (1R); P297L at the same position is pathogenic; REVEL 0.949 | |
| ADA R282W | 282 | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; R282L at the same position is pathogenic; REVEL 0.824 | |
| ADA G239S | 239 | Uncertain (★★★) | +6: in a 3D region that tolerates change poorly (2R); G239D at the same position is pathogenic; REVEL 0.972 | |
| ADA R149Q | 149 | Uncertain (★★★) | +6: 2 other pathogenic changes within 3 positions; R149W at the same position is pathogenic; REVEL 0.889 | |
| ADA L152M | 152 | Uncertain (★★★) | +6: 3 other pathogenic changes within 3 positions; L152P at the same position is pathogenic; REVEL 0.820 |
Which prediction tools work for Severe combined immunodeficiency due to adenosine deaminase deficiency
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- CATVariant: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 100 out of 100
- REVEL: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 96 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- phyloP: 95 out of 100
- SIFT: 95 out of 100
Diseases related to Severe combined immunodeficiency due to adenosine deaminase deficiency
- Severe combined immunodeficiency, also linked to ADA
Frequently asked questions
Which genes have records linked to Severe combined immunodeficiency due to adenosine deaminase deficiency?
This view contains 1 analyzed proteins: ADA. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 44 pathogenic or likely pathogenic variants, 114 variants of uncertain significance and 4 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 6 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 204 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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