Is DCDC2 c.426_557del pathogenic?

DCDC2 c.426557del is classified Pathogenic in DCDC2 (ClinVar, No assertion criteria, 2 submitters; last evaluated 2017-05-08). Associated with isolated neonatal sclerosing cholangitis.

What condition is associated with DCDC2 c.426_557del?

DCDC2 c.426_557del is associated with isolated neonatal sclerosing cholangitis (ClinVar).

How is Isolated neonatal sclerosing cholangitis inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

DCDC2 c.426_557del

VCV417767

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

Conditions

isolated neonatal sclerosing cholangitis

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 7.6	GERP 1.6, phastCons 1

Variant & gene context

Gene: DCDC2
Coding: c.426_557del
MANE Select: NM_016356
Type: Deletion
Location: chr6:24301715 (GRCh38)
Gene constraint: LOEUF 1.062 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 63.93 · 1 PDB

Full DCDC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

isolated neonatal sclerosing cholangitis — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Isolated neonatal sclerosing cholangitis (Orphanet):

Inheritance: Autosomal recessive
Onset: Neonatal

Similar variants

DCDC2 p.Gly315fs Pathogenic/Likely pathogenic ★★ same condition
DCDC2 c.923-283_1023+141del Likely pathogenic ★ same condition
DCDC2 p.Glu222fs Likely pathogenic ★ same condition
DCDC2 p.Leu179fs Pathogenic ★ same condition
DCDC2 p.Leu97fs Likely pathogenic ★ same condition
DCDC2 p.Lys298fs Likely pathogenic ★ same condition
DCDC2 c.705-11del Likely benign ★ same condition
DCDC2 c.923-12_923-9del Likely benign ★ 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/dcdc2-c-426-557del (accessed [today's date]).

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