Is CDH23 p.Ile235fs (c.702dup) pathogenic?

CDH23 p.Ile235fs (c.702dup) is classified Likely pathogenic in CDH23 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-10-22). Absent from gnomAD; Associated with pituitary adenoma 5, multiple types.

What condition is associated with CDH23 p.Ile235fs (c.702dup)?

CDH23 p.Ile235fs (c.702dup) is associated with pituitary adenoma 5, multiple types (ClinVar).

How common is CDH23 p.Ile235fs (c.702dup) in the general population?

CDH23 p.Ile235fs (c.702dup) is absent from gnomAD (gnomAD).

How is Familial isolated pituitary adenoma inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

CDH23 p.Ile235fs

c.702dup · rs2493485118 · VCV2680450

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

pituitary adenoma 5, multiple types

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 8 of 70
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 1.9, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: CDH23
Protein: p.Ile235fs
Coding: c.702dup
MANE Select: NM_022124
dbSNP: rs2493485118
Type: Duplication
Location: chr10:71570863 (GRCh38)
Gene constraint: LOEUF 0.685 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Residue 235: the cadherin 2 domain

Full CDH23 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

pituitary adenoma 5, multiple types — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Familial isolated pituitary adenoma (Orphanet):

Inheritance: Autosomal dominant
Onset: Adolescent, Adult, Childhood, Elderly, Infancy

Similar variants

CDH23 p.Arg3096fs Pathogenic/Likely pathogenic ★★ same condition
CDH23 p.Glu1753Ter Pathogenic/Likely pathogenic ★★ same condition
CDH23 p.His1769fs Pathogenic/Likely pathogenic ★★ same condition
CDH23 p.Thr188fs Pathogenic/Likely pathogenic ★★ same condition
CDH23 p.Thr477fs Pathogenic/Likely pathogenic ★★ same condition
CDH23 p.Asp1491fs Likely pathogenic ★ same condition
CDH23 p.Ile3070fs Likely pathogenic ★ same condition
CDH23 p.Leu583fs Likely 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/cdh23-p-ile235fs (accessed [today's date]).

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