Is AGMO p.Phe295fs (c.881dup) pathogenic?

AGMO p.Phe295fs (c.881dup) is classified Uncertain significance in AGMO (ClinVar, No assertion criteria, 1 submitter; last evaluated 2024-05-02). Associated with AGMO-related disorder.

What condition is associated with AGMO p.Phe295fs (c.881dup)?

AGMO p.Phe295fs (c.881dup) is associated with AGMO-related disorder (ClinVar).

AGMO p.Phe295fs

c.881dup · VCV3347825

Uncertain significance No assertion criteria

Classification

Uncertain significance

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

AGMO-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 9 of 13
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.7	GERP -0.094, phastCons 1

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

Variant & gene context

Gene: AGMO
Protein: p.Phe295fs
Coding: c.881dup
MANE Select: NM_001004320
Type: Duplication
Location: chr7:15387481 (GRCh38)
Gene constraint: LOEUF 1.561 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 93.90

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

Disease context

AGMO-related disorder

Similar variants

AGMO p.Tyr236del Likely pathogenic ★★ same condition
AGMO p.Asn207Lys Uncertain significance ★ ⚠ same condition
AGMO p.Leu367del Uncertain significance ★ same condition
AGMO p.Leu412Ile Uncertain significance ★ ⚠ same condition
AGMO p.Pro264Ser Uncertain significance ★ ⚠ same condition
AGMO p.Pro302Ser Uncertain significance ⚠ same condition
AGMO p.Ser219Cys Uncertain significance ⚠ same condition
AGMO c.1074+10A>G Likely benign 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/agmo-p-phe295fs (accessed [today's date]).

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