Is COL18A1 p.Pro941= (c.2823C>A) pathogenic?

COL18A1 p.Pro941= (c.2823C>A) is classified Benign/Likely benign in COL18A1 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2022-10-04). No allele count reported in gnomAD v4.1 (AN 1,577,502); Associated with Knobloch syndrome.

What condition is associated with COL18A1 p.Pro941= (c.2823C>A)?

COL18A1 p.Pro941= (c.2823C>A) is associated with Knobloch syndrome (ClinVar).

How common is COL18A1 p.Pro941= (c.2823C>A) in the general population?

COL18A1 p.Pro941= (c.2823C>A) is no allele count reported in gnomAD v4.1 (AN 1,577,502) (gnomAD).

COL18A1 p.Pro941=

c.2823C>A · rs543392161 · VCV340259

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,577,502)

Conditions

Knobloch syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -14	GERP -2.3
Overall
CADD	0.068	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,577,502). 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: COL18A1
Protein: p.Pro941=
Coding: c.2823C>A
MANE Select: NM_001379500
dbSNP: rs543392161
Type: single nucleotide variant
Location: chr21:45504511 (GRCh38)
Gene constraint: LOEUF 1.001 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 51.77 · 9 PDB
Residue 941: the 'triple-helical region 3 (col3)' region; the 'disordered' region

Full COL18A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Knobloch syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

COL18A1 p.Pro941Leu Uncertain significance ★★ ⚠ same residue
COL18A1 p.Pro941Ala Uncertain significance ★ ⚠ same residue
COL18A1 p.Pro941Arg Uncertain significance ★ ⚠ same residue
COL18A1 c.3013+3A>C Likely pathogenic ★★ same condition
COL18A1 c.3809+2T>C Pathogenic ★★ same condition
COL18A1 p.Arg790Ter Pathogenic ★★ same condition
COL18A1 c.107-11479C>A Uncertain significance ★★ ⚠ same condition
COL18A1 c.107-12131C>T Uncertain significance ★★ ⚠ 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/col18a1-p-pro941 (accessed [today's date]).

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