SLC25A10
Chr 17ARsolute carrier family 25 member 10
Also known as: DIC, MTDPS19
The protein catalyzes the electroneutral exchange of dicarboxylates (malonate, malate, succinate), inorganic sulfur-containing anions, and phosphate across the mitochondrial inner membrane, supplying substrates essential for gluconeogenesis, fatty acid metabolism, urea synthesis, and sulfur metabolism. Mutations cause mitochondrial DNA depletion syndrome 19 through autosomal recessive inheritance. The pathogenic mechanism involves loss of function, disrupting critical mitochondrial substrate transport required for cellular metabolism.
Primary Disease Associations & Inheritance
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
135 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 1 | 18 | 0 | 19 |
Likely Pathogenic | 2 | 1 | 4 | 0 | 7 |
VUS | 0 | 59 | 8 | 0 | 67 |
Likely Benign | 0 | 8 | 1 | 5 | 14 |
Benign | 0 | 2 | 0 | 2 | 4 |
Conflicting | — | 1 | |||
| Total | 2 | 71 | 31 | 7 | 112 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLC25A10 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools