Is GLB1 p.Asp342fs (c.1023_1024del) pathogenic?

GLB1 p.Asp342fs (c.10231024del) is classified Likely pathogenic in GLB1 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-12-31). No gnomAD frequency available for this variant; Associated with GLB1-related disorder.

What condition is associated with GLB1 p.Asp342fs (c.1023_1024del)?

GLB1 p.Asp342fs (c.1023_1024del) is associated with GLB1-related disorder (ClinVar).

How common is GLB1 p.Asp342fs (c.1023_1024del) in the general population?

GLB1 p.Asp342fs (c.1023_1024del) is no gnomAD frequency available for this variant (gnomAD).

GLB1 p.Asp342fs

c.1023_1024del · rs2471354329 · VCV1726739

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

GLB1-related disorder

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 10 of 16
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.9	GERP 2.1, 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: GLB1
Protein: p.Asp342fs
Coding: c.1023_1024del
MANE Select: NM_000404
dbSNP: rs2471354329
Type: Deletion
Location: chr3:33046164 (GRCh38)
Gene constraint: LOEUF 0.938 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 90.19 · 8 PDB

Full GLB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

GLB1-related disorder — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

GLB1 p.Gln234fs Pathogenic/Likely pathogenic ★★ same condition
GLB1 p.Asn321fs Likely pathogenic ★ same condition
GLB1 p.Gln279fs Likely pathogenic ★ same condition
GLB1 p.Gly163fs Likely pathogenic ★ same condition
GLB1 p.Leu77fs Likely pathogenic ★ same condition
GLB1 p.Pro167fs Likely pathogenic ★ same condition
GLB1 p.Asp342Glu Uncertain significance ★ ⚠ same residue
GLB1 c.734-8A>G 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/glb1-p-asp342fs (accessed [today's date]).

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