Is SERPING1 p.Val266fs (c.796del) pathogenic?

SERPING1 p.Val266fs (c.796del) is classified Likely pathogenic in SERPING1 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-10-30). Associated with C1 inhibitor deficiency.

What condition is associated with SERPING1 p.Val266fs (c.796del)?

SERPING1 p.Val266fs (c.796del) is associated with C1 inhibitor deficiency (ClinVar).

SERPING1 p.Val266fs

c.796del · VCV4526430

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

C1 inhibitor deficiency

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 5 of 8
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.7	GERP 2.3, phastCons 1

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

Variant & gene context

Gene: SERPING1
Protein: p.Val266fs
Coding: c.796del
MANE Select: NM_000062
Type: Deletion
Location: chr11:57606118 (GRCh38)
Gene constraint: LOEUF 0.278 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 80.63 · 5 PDB
Residue 266: an α-helix

Full SERPING1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

C1 inhibitor deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

SERPING1 p.Val266= Conflicting classifications of pathogenicity ★ same residue
SERPING1 p.Gln484Ter Pathogenic ★★ same condition
SERPING1 p.Ser36fs Pathogenic ★★ same condition
SERPING1 p.Ala333Thr Uncertain significance ★★ ⚠ same condition
SERPING1 p.Leu295Pro Uncertain significance ★★ ⚠ same condition
SERPING1 p.Lys52Arg Uncertain significance ★★ ⚠ same condition
SERPING1 p.Met383Val Uncertain significance ★★ ⚠ same condition
SERPING1 p.Thr404Met 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/serping1-p-val266fs (accessed [today's date]).

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