Is CIC p.Ser1870fs (c.5607del) pathogenic?

CIC p.Ser1870fs (c.5607del) is classified Likely pathogenic in CIC (ClinVar, Single submitter, 1 submitter; last evaluated 2020-01-09). Associated with CIC-related disorder.

What condition is associated with CIC p.Ser1870fs (c.5607del)?

CIC p.Ser1870fs (c.5607del) is associated with CIC-related disorder (ClinVar).

CIC p.Ser1870fs

c.5607del · VCV4942641

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

CIC-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 in a haploinsufficient gene (ClinGen); NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.6	GERP 1.2, phastCons 1

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

Variant & gene context

Gene: CIC
Protein: p.Ser1870fs
Coding: c.5607del
MANE Select: NM_005984 · reported on NM_001386298
Type: Deletion
Location: chr19:42291734 (GRCh38)
Structure: AlphaFold pLDDT 75.09

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

Disease context

CIC-related disorder

Similar variants

CIC p.Ala1339fs Likely pathogenic ★ same condition
CIC p.Arg2293fs Likely pathogenic ★ same condition
CIC p.Leu1500fs Likely pathogenic ★ same condition
CIC p.Asp96_Gly97del Uncertain significance ★ same condition
CIC p.Ser1870Gly Uncertain significance ★ ⚠ same residue
CIC p.Ser1870Ile Uncertain significance ★ ⚠ same residue
CIC c.3658+6_3658+9del Uncertain significance same condition
SLC25A1 c.747+21_747+31del 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/cic-p-ser1870fs (accessed [today's date]).

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