Is CIZ1 p.Pro795= (c.2385C>T) pathogenic?

CIZ1 p.Pro795= (c.2385C>T) is classified Likely benign in CIZ1 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-09-22). Very rare (popmax 0.00801%, afr); Associated with dystonic disorder.

What condition is associated with CIZ1 p.Pro795= (c.2385C>T)?

CIZ1 p.Pro795= (c.2385C>T) is associated with dystonic disorder (ClinVar).

How common is CIZ1 p.Pro795= (c.2385C>T) in the general population?

CIZ1 p.Pro795= (c.2385C>T) is very rare (popmax 0.00801%, afr) (gnomAD).

CIZ1 p.Pro795=

c.2385C>T · rs185085914 · VCV2758275

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00801%, afr)

Conditions

dystonic disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -12	GERP -7.5
Overall
CADD	0.263	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00801% African / African-American · 6/74,916 alleles

Filtering AF 0.00359% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00255%

Overall 0.00372% 60/1,614,070 alleles · very rare exomes 53/1,461,876 · genomes 7/152,194 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00801%	12,486
South Asian	0.00769%	13,012
Remaining individualsnot grpmax-eligible	0.0064%	15,622
East Asian	0.00445%	22,451
European (non-Finnish)	0.00347%	28,781

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: CIZ1
Protein: p.Pro795=
Coding: c.2385C>T
MANE Select: NM_001131016
dbSNP: rs185085914
Type: single nucleotide variant
Location: chr9:128166861 (GRCh38)
Gene constraint: LOEUF 0.69 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 53.51 · 1 PDB

Full CIZ1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

dystonic disorder — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CIZ1 p.Ala128Ser Uncertain significance ★★ ⚠ same condition
CIZ1 p.Ala345Val Uncertain significance ★★ ⚠ same condition
CIZ1 p.Ala523Ser Uncertain significance ★★ ⚠ same condition
CIZ1 p.Ala833Gly Uncertain significance ★★ ⚠ same condition
CIZ1 p.Arg286Gln Uncertain significance ★★ ⚠ same condition
CIZ1 p.Arg571His Uncertain significance ★★ ⚠ same condition
CIZ1 p.Arg640Gln Uncertain significance ★★ ⚠ same condition
CIZ1 p.Arg865His 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/ciz1-p-pro795 (accessed [today's date]).

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