Is CFH p.Thr30fs (c.88dup) pathogenic?

CFH p.Thr30fs (c.88dup) is classified Pathogenic in CFH (ClinVar, Single submitter, 1 submitter; last evaluated 2026-09-17). Associated with atypical hemolytic-uremic syndrome.

What condition is associated with CFH p.Thr30fs (c.88dup)?

CFH p.Thr30fs (c.88dup) is associated with atypical hemolytic-uremic syndrome (ClinVar).

How is Atypical hemolytic uremic syndrome inherited?

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

CFH p.Thr30fs

c.88dup · VCV4291334

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

atypical hemolytic-uremic syndrome

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 LoF-intolerant gene
NMD	predicted	premature termination codon in exon 2 of 22
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.67	GERP -4.1

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

Variant & gene context

Gene: CFH
Protein: p.Thr30fs
Coding: c.88dup
MANE Select: NM_000186
Type: Duplication
Location: chr1:196673006 (GRCh38)
Gene constraint: LOEUF 0.43 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 78.54 · 51 PDB
Residue 30: a β-strand; the sushi 1 domain; a disulfide bond

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

Disease context

atypical hemolytic-uremic syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Atypical hemolytic uremic syndrome (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, Not applicable
Onset: All ages
Prevalence: 1-9 / 1 000 000 (United States)

Similar variants

CFH c.245-10_245-9dup Benign/Likely benign ★★ same condition
CFH c.245-11_245-9dup Benign/Likely benign ★★ same condition
CFH c.2783-3dup Benign/Likely benign ★★ same condition
CFH p.Lys204fs Pathogenic ★ same condition
CFH c.351-4dup Uncertain significance ★ same condition
CFH c.59-19_59-18dup Uncertain significance ★ same condition
CFH p.Gly1194_Glu1195insTrpThrAlaLysGlnLysLeuTyrSerArgThrGly Uncertain significance ★ same condition
CFH p.Tyr398_Asn399insGluAsnGlyTyr 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/cfh-p-thr30fs (accessed [today's date]).

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