Is CFH p.Gln293= (c.879G>A) pathogenic?

CFH p.Gln293= (c.879G>A) is classified Conflicting classifications of pathogenicity in CFH (ClinVar, Conflicting submitters, 1 submitter; last evaluated 2018-01-12). Very rare (popmax 0.00893%, eas); Associated with basal laminar drusen.

What condition is associated with CFH p.Gln293= (c.879G>A)?

CFH p.Gln293= (c.879G>A) is associated with basal laminar drusen, hemolytic uremic syndrome, atypical, susceptibility to, 1, age related macular degeneration 4 (ClinVar).

How common is CFH p.Gln293= (c.879G>A) in the general population?

CFH p.Gln293= (c.879G>A) is very rare (popmax 0.00893%, eas) (gnomAD).

CFH p.Gln293=

c.879G>A · rs769615121 · VCV875038

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00893%, eas)

Conditions

basal laminar drusen

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 -1.8	GERP -3.5
Overall
CADD	0.12	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00893% East Asian · 4/44,814 alleles

Filtering AF 0.00298% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0018%

Overall 0.000342% 5/1,460,854 alleles · very rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.00893%	11,204
European (non-Finnish)	8.48e-05%	1,179,216

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: CFH
Protein: p.Gln293=
Coding: c.879G>A
MANE Select: NM_000186
dbSNP: rs769615121
Type: single nucleotide variant
Location: chr1:196685152 (GRCh38)
Gene constraint: LOEUF 0.43 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 78.54 · 51 PDB
Residue 293: a disulfide bond; the sushi 5 domain

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

Disease context

basal laminar drusen — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: hemolytic uremic syndrome, atypical, susceptibility to, 1 age related macular degeneration 4

Similar variants

CFH p.Gln293Arg Uncertain significance ★★ ⚠ same residue
CFH p.Gln293Ter Pathogenic ★ same residue
CFH c.1337-2A>G Likely pathogenic ★★ same condition
CFH c.2236+1G>C Likely pathogenic ★★ same condition
CFH c.350+1G>T Pathogenic/Likely pathogenic ★★ same condition
CFH c.619+1G>A Pathogenic/Likely pathogenic ★★ same condition
CFH p.Arg1215Ter Pathogenic/Likely pathogenic ★★ same condition
CFH p.Arg232Ter 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/cfh-p-gln293 (accessed [today's date]).

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