Is ABCA3 p.Arg605= (c.1815G>C) pathogenic?

ABCA3 p.Arg605= (c.1815G>C) is classified Likely benign in ABCA3 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-10-23). Absent from gnomAD v4.1.

How common is ABCA3 p.Arg605= (c.1815G>C) in the general population?

ABCA3 p.Arg605= (c.1815G>C) is absent from gnomAD v4.1 (gnomAD).

ABCA3 p.Arg605=

c.1815G>C · rs1596843930 · VCV793013

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

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 -0.26	GERP -5.4, phastCons 0.098
Overall
CADD	6.909	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: ABCA3
Protein: p.Arg605=
Coding: c.1815G>C
MANE Select: NM_001089
dbSNP: rs1596843930
Type: single nucleotide variant
Location: chr16:2298467 (GRCh38)
Gene constraint: LOEUF 0.612 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 81.00 · 2 PDB
Residue 605: a turn; the abc transporter 1 domain; a UniProt-annotated variant site (in smdp3; uncertain significance)

Full ABCA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ABCA3 p.Arg605Gln Conflicting classifications of pathogenicity ★ ⚠ same residue
ABCA3 p.Arg605Trp Uncertain significance ★ ⚠ same residue
ABCA3 c.1112-20G>A Likely pathogenic ★★ same type
ABCA3 c.2053-1G>C Likely pathogenic ★★ same type
ABCA3 c.2414+1G>A Likely pathogenic ★★ same type
ABCA3 c.3863-98C>T Pathogenic ★★ same type
ABCA3 c.614-2A>G Likely pathogenic ★★ same type
ABCA3 p.Ala1070Thr Likely 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/abca3-p-arg605 (accessed [today's date]).

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