Is COL3A1 p.Pro191fs (c.570del) pathogenic?

COL3A1 p.Pro191fs (c.570del) is classified Likely pathogenic in COL3A1 (ClinVar, Single submitter, 1 submitter; last evaluated 2017-11-07). No gnomAD frequency available for this variant; Associated with Ehlers-Danlos syndrome, vascular type.

What condition is associated with COL3A1 p.Pro191fs (c.570del)?

COL3A1 p.Pro191fs (c.570del) is associated with Ehlers-Danlos syndrome, vascular type (ClinVar).

How common is COL3A1 p.Pro191fs (c.570del) in the general population?

COL3A1 p.Pro191fs (c.570del) is no gnomAD frequency available for this variant (gnomAD).

How is Vascular Ehlers-Danlos syndrome inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

COL3A1 p.Pro191fs

c.570del · rs2469113424 · VCV3076050

Likely pathogenic Single submitter

Classification

Likely 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

Ehlers-Danlos syndrome, vascular type

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 6 of 51
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.3	GERP 2, 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: COL3A1
Protein: p.Pro191fs
Coding: c.570del
MANE Select: NM_000090
dbSNP: rs2469113424
Type: Deletion
Location: chr2:188988122 (GRCh38)
Gene constraint: LOEUF 0.291 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 54.98 · 11 PDB
Residue 191: a modified residue (4-hydroxyproline); the 'disordered' region; the 'triple-helical region' region

Full COL3A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Ehlers-Danlos syndrome, vascular type — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Vascular Ehlers-Danlos syndrome (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive
Onset: Infancy, Neonatal
Prevalence: 1-9 / 100 000 (Worldwide)

Similar variants

COL3A1 c.3257_3266delGTCCTCAAGG Pathogenic/Likely pathogenic ★★ same condition
COL3A1 p.Glu1246fs Pathogenic/Likely pathogenic ★★ same condition
COL3A1 p.Gly1146fs Pathogenic ★★ same condition
COL3A1 p.Gly186fs Pathogenic ★★ same condition
COL3A1 p.Gly564fs Pathogenic ★★ same condition
COL3A1 p.Gly636fs Pathogenic/Likely pathogenic ★★ same condition
COL3A1 p.Pro551fs Pathogenic ★★ same condition
COL3A1 p.Pro565fs Pathogenic/Likely 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/col3a1-p-pro191fs (accessed [today's date]).

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