NGLY1
Chr 3ARN-glycanase 1
Also known as: CDDG, CDG1V, PNG-1, PNG1, PNGase
The protein specifically deglycosylates misfolded N-linked glycoproteins in the cytoplasm to facilitate their degradation by the proteasome. Mutations cause congenital disorder of deglycosylation 1, an autosomal recessive condition with early onset developmental delay, hypotonia, seizures, and liver dysfunction. The gene is highly intolerant to loss-of-function variants, consistent with the severe phenotype observed in affected individuals.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
600 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 | 51 | 1 | 12 | 0 | 64 |
Likely Pathogenic | 21 | 2 | 2 | 0 | 25 |
VUS | 1 | 121 | 11 | 1 | 134 |
Likely Benign | 0 | 4 | 142 | 184 | 330 |
Benign | 0 | 0 | 28 | 0 | 28 |
Conflicting | — | 6 | |||
| Total | 73 | 128 | 195 | 185 | 587 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NGLY1 · 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