DNAH7
Chr 2ARdynein axonemal heavy chain 7
Also known as: CILD50
DNAH7 encodes a dynein heavy chain protein that generates force for respiratory cilia and sperm flagella beating through its ATPase activity. Biallelic mutations cause primary ciliary dyskinesia, an autosomal recessive disorder affecting respiratory function and fertility. This gene is not highly constrained against loss-of-function variants.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
The highest-scoring mechanism for this gene is gain-of-function.
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
395 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 | 0 | 2 | 0 | 2 |
Likely Pathogenic | 5 | 0 | 0 | 0 | 5 |
VUS | 3 | 344 | 2 | 0 | 349 |
Likely Benign | 0 | 6 | 0 | 2 | 8 |
Benign | 0 | 1 | 0 | 0 | 1 |
Conflicting | — | 2 | |||
| Total | 8 | 351 | 4 | 2 | 367 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DNAH7 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools