Methylmalonic aciduria, cblA type: genes and variants
Explore variant evidence for Methylmalonic aciduria, cblA type across 1 analyzed protein (MMAA). Linked ClinVar records include 21 pathogenic or likely pathogenic variants, 90 variants of uncertain significance and 8 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. Counts refer to the selected disease label.
Data updated 2026-10-11. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Methylmalonic aciduria, cblA type
MMAA: Methylmalonic aciduria type A protein, mitochondrial
A mitochondrial GTPase that helps deliver and reactivate vitamin B12 cofactor for methylmalonyl-CoA mutase. Variants cause the cblA form of methylmalonic acidemia.
21 ClinVar pathogenic / likely pathogenic and 98 uncertain variants in MMAA have source records linked to Methylmalonic aciduria, cblA type. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Methylmalonic aciduria, cblA type
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MMAA V220M | 220 | Pathogenic / likely pathogenic (★★) | |
| MMAA L122P | 122 | Pathogenic / likely pathogenic (★★) | |
| MMAA L89P | 89 | Pathogenic / likely pathogenic (★★) | |
| MMAA R145Q | 145 | Pathogenic / likely pathogenic (★★) | |
| MMAA D258N | 258 | Pathogenic / likely pathogenic (★★) | |
| MMAA R359Q | 359 | Pathogenic / likely pathogenic (★★) | |
| MMAA G399V | 399 | Pathogenic / likely pathogenic (★★) | |
| MMAA G278S | 278 | Pathogenic / likely pathogenic (★) | |
| MMAA V220A | 220 | Pathogenic / likely pathogenic (★) | |
| MMAA G147E | 147 | Pathogenic / likely pathogenic (★) | |
| MMAA G188R | 188 | Pathogenic / likely pathogenic (★) | |
| MMAA D292V | 292 | Pathogenic / likely pathogenic (★) | |
| MMAA G192D | 192 | Pathogenic / likely pathogenic (★) | |
| MMAA I241F | 241 | Pathogenic / likely pathogenic (★) | |
| MMAA T243N | 243 | Pathogenic / likely pathogenic (★) | |
| MMAA A287D | 287 | Pathogenic / likely pathogenic (★) | |
| MMAA S79P | 79 | Pathogenic / likely pathogenic (★) | |
| MMAA G278D | 278 | Pathogenic / likely pathogenic | |
| MMAA Y207C | 207 | Pathogenic / likely pathogenic | |
| MMAA M342R | 342 | Pathogenic / likely pathogenic | |
| MMAA M1V | 1 | Pathogenic / likely pathogenic |
Uncertain variants prioritized for review in Methylmalonic aciduria, cblA type
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| MMAA G147R | 147 | Uncertain | +7: 2 other pathogenic changes within 3 positions; G147E at the same position is pathogenic; seen in 6.6e-06 of gnomAD DNA copies; REVEL 0.980 |
Diseases related to Methylmalonic aciduria, cblA type
- Methylmalonic acidemia, also linked to MMAA
Frequently asked questions
Which genes have records linked to Methylmalonic aciduria, cblA type?
This view contains 1 analyzed proteins: MMAA. 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 21 pathogenic or likely pathogenic variants, 90 variants of uncertain significance and 8 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. 1 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 139 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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