Is GDAP1 p.Trp268fs (c.802_803del) pathogenic?

GDAP1 p.Trp268fs (c.802803del) is classified Likely pathogenic in GDAP1 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-07-10). Absent from gnomAD; Associated with peripheral neuropathy.

What condition is associated with GDAP1 p.Trp268fs (c.802_803del)?

GDAP1 p.Trp268fs (c.802_803del) is associated with peripheral neuropathy (ClinVar).

How common is GDAP1 p.Trp268fs (c.802_803del) in the general population?

GDAP1 p.Trp268fs (c.802_803del) is absent from gnomAD (gnomAD).

GDAP1 p.Trp268fs

c.802_803del · rs765346218 · VCV816531

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

peripheral neuropathy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	escapes	premature termination codon in the last exon (6 of 6) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.4	GERP -2.6, 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: GDAP1
Protein: p.Trp268fs
Coding: c.802_803del
MANE Select: NM_018972
dbSNP: rs765346218
Type: Deletion
Location: chr8:74364092 (GRCh38)
Gene constraint: LOEUF 0.963 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 87.68 · 8 PDB
Residue 268: the gst c-terminal domain

Full GDAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

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

Similar variants

GDAP1 p.Pro153Leu Pathogenic/Likely pathogenic ★★ same condition
GDAP1 p.Glu53Ter Likely pathogenic ★ same condition
GDAP1 p.Glu168fs Pathogenic/Likely pathogenic ★★ same type
GDAP1 p.Met1fs Pathogenic/Likely pathogenic ★★ same type
GDAP1 p.Phe263fs Pathogenic/Likely pathogenic ★★ same type
GDAP1 p.Pro179fs Pathogenic/Likely pathogenic ★★ same type
GDAP1 p.Tyr279_Tyr280insTer Pathogenic/Likely pathogenic ★★ same type
GDAP1 c.311-1790_408del 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/gdap1-p-trp268fs (accessed [today's date]).

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