Is CDAN1 p.Pro51fs (c.148_151dup) pathogenic?

CDAN1 p.Pro51fs (c.148151dup) is classified Likely pathogenic in CDAN1 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-05-06). Associated with anemia, congenital dyserythropoietic, type 1a.

What condition is associated with CDAN1 p.Pro51fs (c.148_151dup)?

CDAN1 p.Pro51fs (c.148_151dup) is associated with anemia, congenital dyserythropoietic, type 1a (ClinVar).

How is Congenital dyserythropoietic anemia type I inherited?

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

CDAN1 p.Pro51fs

c.148_151dup · VCV3577124

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

anemia, congenital dyserythropoietic, type 1a

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 28
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 1.6, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: CDAN1
Protein: p.Pro51fs
Coding: c.148_151dup
MANE Select: NM_138477
Type: Duplication
Location: chr15:42736719 (GRCh38)
Gene constraint: LOEUF 0.908 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 72.58 · 2 PDB
Residue 51: an α-helix

Full CDAN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

anemia, congenital dyserythropoietic, type 1a — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Congenital dyserythropoietic anemia type I (Orphanet):

Inheritance: Autosomal recessive
Onset: Adolescent, Adult, Childhood, Infancy, Neonatal
Prevalence: <1 / 1 000 000 (Europe)

Similar variants

CDAN1 p.Pro51Leu Likely pathogenic ★★ ⚠ same residue
CDAN1 p.Met533fs Pathogenic/Likely pathogenic ★★ same condition
CDAN1 c.2864_2868+4dup Uncertain significance ★★ same condition
CDAN1 p.Gly1098fs Likely pathogenic ★ same condition
CDAN1 p.Ile802fs Likely pathogenic ★ same condition
CDAN1 p.Thr563fs Likely pathogenic ★ same condition
CDAN1 c.2645+2dup Uncertain significance ★ same condition
CDAN1 p.Ala1006_Arg1007insGlnGlyProGluProAlaAla Uncertain significance ★ 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/cdan1-p-pro51fs (accessed [today's date]).

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