Is PIGN p.Phe732fs (c.2193_2194dup) pathogenic?

PIGN p.Phe732fs (c.21932194dup) is classified Likely pathogenic in PIGN (ClinVar, Single submitter, 1 submitter; last evaluated 2020-10-15). Associated with PIGN-related disorder.

What condition is associated with PIGN p.Phe732fs (c.2193_2194dup)?

PIGN p.Phe732fs (c.2193_2194dup) is associated with PIGN-related disorder (ClinVar).

PIGN p.Phe732fs

c.2193_2194dup · VCV4939240

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

PIGN-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 24 of 31
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 2, phastCons 1

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

Variant & gene context

Gene: PIGN
Protein: p.Phe732fs
Coding: c.2193_2194dup
MANE Select: NM_176787
Type: Microsatellite
Location: chr18:62090564 (GRCh38)
Gene constraint: LOEUF 1.46 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 88.33

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

Disease context

PIGN-related disorder

Similar variants

PIGN c.1434+5G>A Pathogenic/Likely pathogenic ★★ same condition
PIGN c.1674+1G>C Pathogenic ★★ same condition
PIGN p.Gln321= Pathogenic/Likely pathogenic ★★ same condition
PIGN p.Trp519Ter Pathogenic/Likely pathogenic ★★ same condition
PIGN p.Thr285Ile Uncertain significance ★★ ⚠ same condition
PIGN p.Gln760Ter Likely pathogenic ★ same condition
PIGN p.Ser535Ter Pathogenic ★ same condition
PIGN p.Ile746Arg Conflicting classifications of pathogenicity ★ 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/pign-p-phe732fs (accessed [today's date]).

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