Is ABCD4 p.Gly455fs (c.1364_1374del) pathogenic?

ABCD4 p.Gly455fs (c.13641374del) is classified Likely pathogenic in ABCD4 (ClinVar, Single submitter, 1 submitter; last evaluated 2020-12-30). Associated with ABCD4-related disorder.

What condition is associated with ABCD4 p.Gly455fs (c.1364_1374del)?

ABCD4 p.Gly455fs (c.1364_1374del) is associated with ABCD4-related disorder (ClinVar).

ABCD4 p.Gly455fs

c.1364_1374del · VCV4922339

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

ABCD4-related disorder

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 13 of 19
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 5.7	GERP 1.5, phastCons 1

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

Variant & gene context

Gene: ABCD4
Protein: p.Gly455fs
Coding: c.1364_1374del
MANE Select: NM_005050
Type: Deletion
Location: chr14:74290072 (GRCh38)
Gene constraint: LOEUF 0.772 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 87.18 · 4 PDB
Residue 455: the abc transporter domain

Full ABCD4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

ABCD4-related disorder

Similar variants

ABCD4 p.Gly455= Likely benign ★ same residue
ABCD4 c.542+1G>T Pathogenic ★★ same condition
ABCD4 c.1118+1G>C Uncertain significance same condition
ABCD4 c.1506+63A>G Likely benign same condition
ABCD4 c.542+6G>A Likely benign same condition
ABCD4 p.Pro6= Likely benign same condition
ABCD4 p.Ala237fs Likely pathogenic ★★ same type
ABCD4 p.Trp377fs Pathogenic ★★ same type

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/abcd4-p-gly455fs (accessed [today's date]).

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