Is DCC p.Val263fs (c.788_794del) pathogenic?

DCC p.Val263fs (c.788794del) is classified Pathogenic in DCC (ClinVar, Single submitter, 3 submitters; last evaluated 2025-09-10). No gnomAD frequency available for this variant.

What condition is associated with DCC p.Val263fs (c.788_794del)?

DCC p.Val263fs (c.788_794del) is associated with gaze palsy, familial horizontal, with progressive scoliosis, 2 (ClinVar).

How common is DCC p.Val263fs (c.788_794del) in the general population?

DCC p.Val263fs (c.788_794del) is no gnomAD frequency available for this variant (gnomAD).

DCC p.Val263fs

c.788_794del · rs1555682265 · VCV446724

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 3 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

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 LoF-intolerant gene
NMD	predicted	premature termination codon in exon 4 of 29
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.21	GERP -0.71, phastCons 0.64

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: DCC
Protein: p.Val263fs
Coding: c.788_794del
MANE Select: NM_005215
dbSNP: rs1555682265
Type: Deletion
Location: chr18:52923796 (GRCh38)
Gene constraint: LOEUF 0.414 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 68.60 · 9 PDB
Residue 263: the ig-like c2-type 3 domain

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

Disease context

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

Also linked: gaze palsy, familial horizontal, with progressive scoliosis, 2

Similar variants

DCC p.Asn678fs Likely pathogenic ★ same condition
DCC p.Ile760fs Pathogenic ★ same condition
DCC p.Lys419fs Likely pathogenic ★ same condition
DCC p.Pro1315fs Pathogenic ★ same condition
DCC p.Val793fs Pathogenic ★ same condition
DCC c.31_91+7622del Pathogenic same condition
DCC p.Asp233_Leu328del Pathogenic same condition
DCC p.Thr309fs 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/dcc-p-val263fs (accessed [today's date]).

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