Is OCRL p.Ser143Pro (c.426_427delinsAC) pathogenic?

OCRL p.Ser143Pro (c.426427delinsAC) is classified Uncertain significance in OCRL (ClinVar, Single submitter, 1 submitter; last evaluated 2015-05-28). No gnomAD frequency available for this variant.

How common is OCRL p.Ser143Pro (c.426_427delinsAC) in the general population?

OCRL p.Ser143Pro (c.426_427delinsAC) is no gnomAD frequency available for this variant (gnomAD).

OCRL p.Ser143Pro

c.426_427delinsAC · rs797045844 · VCV211781

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.6	GERP 0.36, phastCons 1
Regional constraint	o/e 0.99	unconstrained · MANE · 19 kb · p 0.85 · regional, not allelic

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: OCRL
Protein: p.Ser143Pro
Coding: c.426_427delinsAC
MANE Select: NM_000276
dbSNP: rs797045844
Type: Indel
Location: chrX:129557937 (GRCh38)
Structure: AlphaFold pLDDT 82.91 · 5 PDB

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

Similar variants

OCRL p.Ser143fs Likely pathogenic ★ same residue
OCRL p.Ser143Phe Conflicting classifications of pathogenicity ★ ⚠ same residue
OCRL p.Glu712fs Likely pathogenic ★ same type
OCRL p.Leu684fs Likely pathogenic ★ same type
OCRL p.Glu806_Leu807delinsAspMet Uncertain significance ★ same type
OCRL c.1244+13_1244+41delinsAAA Likely benign ★ 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-ser143pro (accessed [today's date]).

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