Is COL1A1 p.Pro810fs (c.2429del) pathogenic?

COL1A1 p.Pro810fs (c.2429del) is classified Pathogenic in COL1A1 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-07-03). No gnomAD frequency available for this variant; Associated with osteogenesis imperfecta type 1.

What condition is associated with COL1A1 p.Pro810fs (c.2429del)?

COL1A1 p.Pro810fs (c.2429del) is associated with osteogenesis imperfecta type 1 (ClinVar).

How common is COL1A1 p.Pro810fs (c.2429del) in the general population?

COL1A1 p.Pro810fs (c.2429del) is no gnomAD frequency available for this variant (gnomAD).

COL1A1 p.Pro810fs

c.2429del · rs2509190728 · VCV2013780

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

osteogenesis imperfecta type 1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 35 of 51
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.7	GERP 0.89, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: COL1A1
Protein: p.Pro810fs
Coding: c.2429del
MANE Select: NM_000088
dbSNP: rs2509190728
Type: Deletion
Location: chr17:50190349 (GRCh38)
Gene constraint: LOEUF 0.159 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 54.26 · 14 PDB
Residue 810: the 'disordered' region; the 'triple-helical region' region

Full COL1A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

osteogenesis imperfecta type 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

COL1A1 p.Pro810Ser Uncertain significance ★★ ⚠ same residue
COL1A1 c.2831delG Pathogenic ★★ same condition
COL1A1 c.697-2_697-1del Pathogenic ★★ same condition
COL1A1 c.700delG Pathogenic ★★ same condition
COL1A1 p.Ala1042fs Pathogenic ★★ same condition
COL1A1 p.Arg1141fs Pathogenic ★★ same condition
COL1A1 p.Arg1217fs Pathogenic ★★ same condition
COL1A1 p.Arg304fs Pathogenic ★★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/col1a1-p-pro810fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown