Is OCRL p.Lys232fs (c.695_696del) pathogenic?

OCRL p.Lys232fs (c.695696del) is classified Pathogenic in OCRL (ClinVar, Single submitter, 1 submitter; last evaluated 2026-05-12). Associated with Dent disease.

What condition is associated with OCRL p.Lys232fs (c.695_696del)?

OCRL p.Lys232fs (c.695_696del) is associated with Dent disease (ClinVar).

How is Dent disease inherited?

Typically X-linked recessive (Orphanet). A genetic counselor can assess individual risk for a family.

OCRL p.Lys232fs

c.695_696del · VCV4853250

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Dent disease

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	predicted	premature termination codon in exon 8 of 24
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.4	GERP -3.2, phastCons 1

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

Variant & gene context

Gene: OCRL
Protein: p.Lys232fs
Coding: c.695_696del
MANE Select: NM_000276
Type: Deletion
Location: chrX:129558973 (GRCh38)
Structure: AlphaFold pLDDT 82.91 · 5 PDB
Residue 232: an α-helix

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

Disease context

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

For Dent disease (Orphanet):

Inheritance: X-linked recessive
Onset: Childhood

Similar variants

OCRL c.2582-1G>C Likely pathogenic ★ same condition
OCRL p.Val527Asp Likely pathogenic ★ same condition
OCRL p.Glu585del Pathogenic/Likely pathogenic ★★ same type
OCRL c.1057-2_1057-1del Likely pathogenic ★ same type
OCRL c.1244+1338_1366del Likely pathogenic ★ same type
OCRL c.238_238+1del Likely pathogenic ★ same type
OCRL c.239delG Pathogenic ★ same type
OCRL p.Arg580fs Likely pathogenic ★ same type

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/ocrl-p-lys232fs (accessed [today's date]).

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