Is ABCD1 p.Ala634= (c.1902C>T) pathogenic?

ABCD1 p.Ala634= (c.1902C>T) is classified Conflicting classifications of pathogenicity in ABCD1 (ClinVar, Conflicting submitters, 6 submitters; last evaluated 2026-01-02). Rare (popmax 0.273%, eas); Associated with Inborn genetic diseases.

What condition is associated with ABCD1 p.Ala634= (c.1902C>T)?

ABCD1 p.Ala634= (c.1902C>T) is associated with Inborn genetic diseases, adrenoleukodystrophy (ClinVar).

How common is ABCD1 p.Ala634= (c.1902C>T) in the general population?

ABCD1 p.Ala634= (c.1902C>T) is rare (popmax 0.273%, eas) (gnomAD).

ABCD1 p.Ala634=

c.1902C>T · rs141110958 · VCV528351

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 6 submitters

gnomAD v4.1

Rare

rare (popmax 0.273%, eas)

Conditions

Inborn genetic diseases

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -16	GERP -3.1
Overall
CADD	0.337	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.273% East Asian · 92/33,672 alleles

Filtering AF 0.228% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.211%

Overall 0.016% 193/1,207,028 alleles · rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.273%	366
South Asian	0.0729%	1,371
Remaining individualsnot grpmax-eligible	0.0337%	2,965
European (non-Finnish)	0.0047%	21,291
Admixed American	0.00437%	22,882

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: ABCD1
Protein: p.Ala634=
Coding: c.1902C>T
MANE Select: NM_000033
dbSNP: rs141110958
Type: single nucleotide variant
Location: chrX:153743257 (GRCh38)
Structure: AlphaFold pLDDT 81.58 · 14 PDB
Residue 634: a turn; the abc transporter domain

Full ABCD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

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

Also linked: adrenoleukodystrophy

Similar variants

ABCD1 p.Ala634Thr Conflicting classifications of pathogenicity ★ ⚠ same residue
ABCD1 p.Ala634Val Uncertain significance ★ ⚠ same residue
ABCD1 c.1635-2A>G Pathogenic ★★ same condition
ABCD1 c.1781-1G>C Pathogenic ★★ same condition
ABCD1 c.1781-1G>T Pathogenic/Likely pathogenic ★★ same condition
ABCD1 c.1866-10G>A Pathogenic/Likely pathogenic ★★ same condition
ABCD1 c.1866-1G>C Likely pathogenic ★★ same condition
ABCD1 c.1866-2A>T 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/abcd1-p-ala634 (accessed [today's date]).

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