Is COL1A1 p.Ser1237fs (c.3711_3712delinsG) pathogenic?

COL1A1 p.Ser1237fs (c.37113712delinsG) is classified Pathogenic in COL1A1 (ClinVar, Single submitter, 1 submitter). Absent from gnomAD; Associated with osteogenesis imperfecta type 1.

What condition is associated with COL1A1 p.Ser1237fs (c.3711_3712delinsG)?

COL1A1 p.Ser1237fs (c.3711_3712delinsG) is associated with osteogenesis imperfecta type 1 (ClinVar).

How common is COL1A1 p.Ser1237fs (c.3711_3712delinsG) in the general population?

COL1A1 p.Ser1237fs (c.3711_3712delinsG) is absent from gnomAD (gnomAD).

COL1A1 p.Ser1237fs

c.3711_3712delinsG · rs2144536639 · VCV1332735

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 48 of 51
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.5	GERP 0.74, 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.Ser1237fs
Coding: c.3711_3712delinsG
MANE Select: NM_000088
dbSNP: rs2144536639
Type: Indel
Location: chr17:50186742 (GRCh38)
Gene constraint: LOEUF 0.159 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 54.26 · 14 PDB
Residue 1237: an α-helix; the fibrillar collagen nc1 domain

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 c.1461+1_1461+4delinsTTAT Pathogenic ★ same condition
COL1A1 c.622_642+3delinsGGGGGGAGCACTGTATAG Pathogenic ★ same condition
COL1A1 p.Arg1356fs Pathogenic ★ same condition
COL1A1 p.Arg970Ter Pathogenic ★ same condition
COL1A1 p.Asp711fs Pathogenic ★ same condition
COL1A1 p.Asp801fs Pathogenic ★ same condition
COL1A1 p.Glu1273_Tyr1274delinsAspTer Pathogenic ★ same condition
COL1A1 p.Gly278Val 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-ser1237fs (accessed [today's date]).

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