Is RAB23 p.Ter238= (c.714A>G) pathogenic?

RAB23 p.Ter238= (c.714A>G) is classified Conflicting classifications of pathogenicity in RAB23 (ClinVar, Conflicting submitters, 2 submitters; last evaluated 2023-09-27). Very rare (popmax 0.000339%, nfe); Associated with RAB23-related Carpenter syndrome.

What condition is associated with RAB23 p.Ter238= (c.714A>G)?

RAB23 p.Ter238= (c.714A>G) is associated with RAB23-related Carpenter syndrome, Carpenter syndrome (ClinVar).

How common is RAB23 p.Ter238= (c.714A>G) in the general population?

RAB23 p.Ter238= (c.714A>G) is very rare (popmax 0.000339%, nfe) (gnomAD).

RAB23 p.Ter238=

c.714A>G · rs142290596 · VCV357639

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 2 submitters

Consequence

stop-loss

predicted LoF

gnomAD v4.1

Rare

very rare (popmax 0.000339%, nfe)

Conditions

RAB23-related Carpenter syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	stop-loss	predicted loss-of-function
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 4.3	GERP 2.2, phastCons 1
Overall
CADD	12.29	PHRED · no single calibrated threshold — expert panels disagree

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

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.000339% European (non-Finnish) · 4/1,179,932 alleles

Filtering AF 7.9e-05% ClinGen BA1/BS1 input FAF95, joint · FAF99 5.4e-05%

Overall 0.000248% 4/1,613,928 alleles · very rare exomes 3/1,461,732 · genomes 1/152,196 · joint denominator

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: RAB23
Protein: p.Ter238=
Coding: c.714A>G
MANE Select: NM_016277
dbSNP: rs142290596
Type: single nucleotide variant
Location: chr6:57190461 (GRCh38)
Gene constraint: LOEUF 0.838 · pLI 0.03 (gnomAD)
Structure: AlphaFold pLDDT 80.39 · 6 PDB

Full RAB23 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Also linked: Carpenter syndrome

Similar variants

RAB23 p.Ter238Glu Conflicting classifications of pathogenicity ★ same residue
RAB23 p.Arg28Ter Pathogenic/Likely pathogenic ★★ same condition
RAB23 p.Arg49Ter Pathogenic/Likely pathogenic ★★ same condition
RAB23 p.Arg80Ter Pathogenic/Likely pathogenic ★★ same condition
RAB23 p.Leu145Ter Pathogenic ★★ same condition
RAB23 c.481+4A>C Uncertain significance ★★ same condition
RAB23 p.Cys30Trp Uncertain significance ★★ ⚠ same condition
RAB23 p.Gly203Ser Uncertain significance ★★ ⚠ 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/rab23-p-ter238 (accessed [today's date]).

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