PNPLA7
Chr 9patatin like domain 7, lysophospholipase
Also known as: C9orf111, NTE-R1, NTEL1
PNPLA7 encodes a lysophospholipase that deacylates lysophosphatidylcholine and other lysophospholipids to generate glycerophosphocholine and regulate lipid metabolism. The gene is not highly constrained against loss-of-function variants and currently has no established disease associations in OMIM or other major clinical databases. No specific inheritance pattern or clinical phenotype has been definitively linked to PNPLA7 mutations at this time.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
480 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 | 114 | 0 | 114 |
Likely Pathogenic | 0 | 0 | 13 | 0 | 13 |
VUS | 1 | 271 | 12 | 0 | 284 |
Likely Benign | 0 | 22 | 1 | 6 | 29 |
Benign | 1 | 1 | 0 | 1 | 3 |
Conflicting | — | 4 | |||
| Total | 2 | 294 | 140 | 7 | 447 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PNPLA7 · 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