Is FIG4 p.Pro611fs (c.1823_1829dup) pathogenic?

FIG4 p.Pro611fs (c.18231829dup) is classified Pathogenic in FIG4 (ClinVar, Single submitter, 1 submitter; last evaluated 2026-01-14). Associated with Charcot-Marie-Tooth disease type 4.

What condition is associated with FIG4 p.Pro611fs (c.1823_1829dup)?

FIG4 p.Pro611fs (c.1823_1829dup) is associated with Charcot-Marie-Tooth disease type 4 (ClinVar).

FIG4 p.Pro611fs

c.1823_1829dup · VCV4777590

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Charcot-Marie-Tooth disease type 4

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 16 of 23
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.9	GERP 2.2, phastCons 1

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

Variant & gene context

Gene: FIG4
Protein: p.Pro611fs
Coding: c.1823_1829dup
MANE Select: NM_014845
Type: Duplication
Location: chr6:109776991 (GRCh38)
Gene constraint: LOEUF 0.966 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 80.65 · 1 PDB

Full FIG4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Charcot-Marie-Tooth disease type 4 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

FIG4 p.Glu767fs Pathogenic/Likely pathogenic ★★ same condition
FIG4 p.Leu458fs Pathogenic ★★ same condition
FIG4 p.Pro605fs Pathogenic ★★ same condition
FIG4 p.Ser750fs Pathogenic ★★ same condition
FIG4 p.Thr556fs Pathogenic/Likely pathogenic ★★ same condition
FIG4 p.Thr689fs Pathogenic/Likely pathogenic ★★ same condition
FIG4 p.Gln888fs Uncertain significance ★★ same condition
FIG4 c.1889+6_1889+11dup 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/fig4-p-pro611fs (accessed [today's date]).

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