Is OCLN p.Ser8fs (c.23del) pathogenic?

OCLN p.Ser8fs (c.23del) is classified Likely pathogenic in OCLN (ClinVar, Single submitter, 1 submitter; last evaluated 2018-03-07). No gnomAD frequency available for this variant.

How common is OCLN p.Ser8fs (c.23del) in the general population?

OCLN p.Ser8fs (c.23del) is no gnomAD frequency available for this variant (gnomAD).

OCLN p.Ser8fs

c.23del · rs1580547770 · VCV817656

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

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 2 of 9
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 2.5, 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: OCLN
Protein: p.Ser8fs
Coding: c.23del
MANE Select: NM_001205254
dbSNP: rs1580547770
Type: Deletion
Location: chr5:69504267 (GRCh38)
Gene constraint: LOEUF 0.728 · pLI 0.02 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 65.82 · 3 PDB
Residue 8: the 'disordered' region

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

Similar variants

OCLN c.891+3_891+6del Uncertain significance ★★ same type
OCLN p.Asn328fs Likely pathogenic ★ same type
OCLN p.Gln211fs Likely pathogenic ★ same type
OCLN p.Gly515fs Likely pathogenic ★ same type
OCLN p.Phe46fs Pathogenic ★ same type
OCLN p.Trp58fs Conflicting classifications of pathogenicity ★ same type
OCLN p.Lys18_Trp297del Pathogenic same type
OCLN p.Lys57fs 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/ocln-p-ser8fs (accessed [today's date]).

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