Is ABCA12 p.Arg830fs (c.2486dup) pathogenic?

ABCA12 p.Arg830fs (c.2486dup) is classified Likely pathogenic in ABCA12 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-10-04). Associated with ichthyosis.

What condition is associated with ABCA12 p.Arg830fs (c.2486dup)?

ABCA12 p.Arg830fs (c.2486dup) is associated with ichthyosis (ClinVar).

ABCA12 p.Arg830fs

c.2486dup · VCV3384055

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

ichthyosis

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 19 of 53
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.93	GERP -2.4, phastCons 1

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

Variant & gene context

Gene: ABCA12
Protein: p.Arg830fs
Coding: c.2486dup
MANE Select: NM_173076
Type: Duplication
Location: chr2:215007832 (GRCh38)
Gene constraint: LOEUF 0.582 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 68.32
Residue 830: a UniProt-annotated variant site (in arci4b)

Full ABCA12 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

ichthyosis — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ABCA12 p.Arg929Cys Likely pathogenic ★★ same condition
ABCA12 p.Ser112fs Likely pathogenic ★ same condition
ABCA12 p.Arg945fs Pathogenic ★★ same type
ABCA12 p.Leu640fs Likely pathogenic ★★ same type
ABCA12 p.Leu758fs Pathogenic/Likely pathogenic ★★ same type
ABCA12 c.7240-23_7240-20dup Benign/Likely benign ★★ same type
ABCA12 p.Arg672fs Pathogenic ★ same type
ABCA12 p.Asn1671fs 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/abca12-p-arg830fs (accessed [today's date]).

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