SARDH
Chr 9ARsarcosine dehydrogenase
Also known as: BPR-2, DMGDHL1, SAR, SARD, SDH
The protein catalyzes the conversion of sarcosine to glycine in the final step of choline degradation to glycine. Autosomal recessive mutations cause sarcosinemia, a metabolic disorder affecting amino acid metabolism. This gene is not highly constrained against loss-of-function variants, consistent with the generally benign nature of sarcosinemia in most affected individuals.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function 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
189 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 | 1 | 0 | 28 | 0 | 29 |
Likely Pathogenic | 1 | 0 | 1 | 0 | 2 |
VUS | 0 | 105 | 6 | 0 | 111 |
Likely Benign | 0 | 7 | 1 | 4 | 12 |
Benign | 0 | 5 | 1 | 9 | 15 |
| Total | 2 | 117 | 37 | 13 | 169 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SARDH · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools