Is CDAN1 p.Ser108= (c.324C>T) pathogenic?

CDAN1 p.Ser108= (c.324C>T) is classified Conflicting classifications of pathogenicity in CDAN1 (ClinVar, Conflicting submitters, 2 submitters; last evaluated 2025-08-21). Ultra-rare (popmax 0.0426%, mid); Associated with congenital dyserythropoietic anemia type 1.

What condition is associated with CDAN1 p.Ser108= (c.324C>T)?

CDAN1 p.Ser108= (c.324C>T) is associated with congenital dyserythropoietic anemia type 1 (ClinVar).

How common is CDAN1 p.Ser108= (c.324C>T) in the general population?

CDAN1 p.Ser108= (c.324C>T) is ultra-rare (popmax 0.0426%, mid) (gnomAD).

How is Congenital dyserythropoietic anemia type I inherited?

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

CDAN1 p.Ser108=

c.324C>T · rs945794101 · VCV885301

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0426%, mid)

Conditions

congenital dyserythropoietic anemia type 1

Computational evidence

Protein change
Missense predictors do not apply to this variant type.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Overall
CADD	10.06	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0426% Middle Eastern · 2/4,698 alleles

Filtering AF 0.00748% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0031%

Overall 0.00203% 30/1,480,646 alleles · ultra-rare exomes 23/1,328,950 · genomes 7/151,696 · joint denominator

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.0426%	2,349
Admixed American	0.00458%	21,847
European (non-Finnish)	0.00215%	46,597
Remaining individualsnot grpmax-eligible	0.00175%	57,004
South Asian	0.00128%	78,398

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: CDAN1
Protein: p.Ser108=
Coding: c.324C>T
MANE Select: NM_138477
dbSNP: rs945794101
Type: single nucleotide variant
Location: chr15:42736547 (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 108: the 'disordered' region

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

Disease context

congenital dyserythropoietic anemia type 1 — 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.Ser108Gly Uncertain significance ★ ⚠ same residue
CDAN1 p.Arg1042Trp Pathogenic/Likely pathogenic ★★ ⚠ same condition
CDAN1 p.Arg714Trp Pathogenic/Likely pathogenic ★★ ⚠ same condition
CDAN1 p.Asn599Ser Likely pathogenic ★★ ⚠ same condition
CDAN1 p.Phe52Leu Pathogenic/Likely pathogenic ★★ ⚠ same condition
CDAN1 p.Pro1130Leu Pathogenic/Likely pathogenic ★★ same condition
CDAN1 p.Pro51Leu Likely pathogenic ★★ ⚠ same condition
CDAN1 p.Pro672Leu Pathogenic/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/cdan1-p-ser108 (accessed [today's date]).

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