Is CIC p.Val2031fs (c.6092_6093del) pathogenic?

CIC p.Val2031fs (c.60926093del) is classified Likely pathogenic in CIC (ClinVar, Single submitter, 1 submitter; last evaluated 2024-07-08). Associated with intellectual developmental disorder, autosomal dominant 45.

What condition is associated with CIC p.Val2031fs (c.6092_6093del)?

CIC p.Val2031fs (c.6092_6093del) is associated with intellectual developmental disorder, autosomal dominant 45 (ClinVar).

CIC p.Val2031fs

c.6092_6093del · VCV4820089

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

intellectual developmental disorder, autosomal dominant 45

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 haploinsufficient gene (ClinGen); NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 6	GERP 0.55, phastCons 1

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

Variant & gene context

Gene: CIC
Protein: p.Val2031fs
Coding: c.6092_6093del
MANE Select: NM_005984 · reported on NM_001386298
Type: Microsatellite
Location: chr19:42292753 (GRCh38)
Structure: AlphaFold pLDDT 75.09

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

Disease context

intellectual developmental disorder, autosomal dominant 45 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CIC p.Arg2080fs Likely pathogenic ★ same condition
CIC p.Arg775fs Pathogenic ★ same condition
CIC p.Glu1054_Ser1055insTer Pathogenic ★ same condition
CIC p.Ser1063fs Likely pathogenic ★ same condition
CIC p.Arg1555fs Uncertain significance ★ same condition
CIC p.Pro1562_Ser1563insAlaPro Uncertain significance ★ same condition
CIC p.Ser1444del Uncertain significance ★ same condition
CIC c.3179+1G>T Pathogenic ★★ 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/cic-p-val2031fs (accessed [today's date]).

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