Is OCRL p.Glu712fs (c.2136_2139delinsCT) pathogenic?

OCRL p.Glu712fs (c.21362139delinsCT) is classified Likely pathogenic in OCRL (ClinVar, Single submitter, 1 submitter; last evaluated 2024-03-01). Associated with oculocerebrorenal syndrome.

What condition is associated with OCRL p.Glu712fs (c.2136_2139delinsCT)?

OCRL p.Glu712fs (c.2136_2139delinsCT) is associated with oculocerebrorenal syndrome, Dent disease type 2 (ClinVar).

OCRL p.Glu712fs

c.2136_2139delinsCT · VCV3598025

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

oculocerebrorenal syndrome

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 19 of 24
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.1	GERP 2.9, phastCons 1

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

Variant & gene context

Gene: OCRL
Protein: p.Glu712fs
Coding: c.2136_2139delinsCT
MANE Select: NM_000276
Type: Indel
Location: chrX:129584364 (GRCh38)
Structure: AlphaFold pLDDT 82.91 · 5 PDB

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

Disease context

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

Also linked: Dent disease type 2

Similar variants

OCRL p.Glu712= Likely benign ★ same residue
OCRL p.Leu684fs Likely pathogenic ★ same condition
OCRL p.Glu806_Leu807delinsAspMet Uncertain significance ★ same condition
OCRL c.1244+13_1244+41delinsAAA Likely benign ★ same condition
OCRL c.1244+1G>A Pathogenic/Likely pathogenic ★★ same condition
OCRL c.1714-1G>A Pathogenic ★★ same condition
OCRL c.2256+1G>T Likely pathogenic ★★ same condition
OCRL c.560+1G>C Pathogenic/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/ocrl-p-glu712fs (accessed [today's date]).

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