IGFBPL1
Chr 9insulin like growth factor binding protein like 1
Also known as: IGFBP-RP4, IGFBPRP4, bA113O24.1
The protein binds insulin-like growth factors (IGFs) to regulate their half-life and modulate their growth-promoting effects by altering IGF interactions with cell surface receptors. Mutations cause autosomal recessive intellectual developmental disorder with cardiac arrhythmia. This gene shows minimal constraint against loss-of-function variants (pLI 0.00004), consistent with recessive inheritance where heterozygous carriers are typically unaffected.
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
153 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 | 60 | 0 | 60 |
Likely Pathogenic | 0 | 0 | 8 | 0 | 8 |
VUS | 0 | 70 | 5 | 0 | 75 |
Likely Benign | 0 | 0 | 1 | 2 | 3 |
Benign | 2 | 0 | 0 | 0 | 2 |
| Total | 2 | 70 | 74 | 2 | 148 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
IGFBPL1 · 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