DTNA
Chr 18ADdystrobrevin alpha
Also known as: D18S892E, DRP3, DTN, DTN-A, LVNC1, MMCKR2
The protein is a component of the dystrophin-associated protein complex that localizes to the sarcolemma and may be involved in synapse formation and acetylcholine receptor clustering. Autosomal dominant mutations cause left ventricular noncompaction with or without congenital heart defects, and myopathy with myalgia, elevated creatine kinase, and episodic rhabdomyolysis. The gene is moderately constrained against loss-of-function variants (LOEUF 0.368).
Primary Disease Associations & Inheritance
Disputed — evidence questions this relationship
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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
500 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 | 11 | 0 | 12 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 12 | 180 | 32 | 3 | 227 |
Likely Benign | 0 | 5 | 95 | 78 | 178 |
Benign | 0 | 2 | 63 | 0 | 65 |
Conflicting | — | 3 | |||
| Total | 12 | 188 | 202 | 81 | 486 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DTNA · 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