Is DHX30 p.Arg356Pro (c.1067G>C) pathogenic?

DHX30 p.Arg356Pro (c.1067G>C) is classified Uncertain significance in DHX30 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-01-28). AlphaMissense: likely pathogenic (0.8027); Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with DHX30 p.Arg356Pro (c.1067G>C)?

DHX30 p.Arg356Pro (c.1067G>C) is associated with Inborn genetic diseases (ClinVar).

How common is DHX30 p.Arg356Pro (c.1067G>C) in the general population?

DHX30 p.Arg356Pro (c.1067G>C) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about DHX30 p.Arg356Pro (c.1067G>C)?

AlphaMissense predicts likely pathogenic (score 0.8027) — an in-silico prediction, not a clinical call.

DHX30 p.Arg356Pro

c.1067G>C · VCV3839826

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.8027 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

2/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.8027	likely pathogenic
REVEL	0.138	moderately benign-leaning
SaProt	LLR -12.02	damaging
⇒ AlphaMissense and SaProt call this damaging; REVEL does not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 8.6	GERP 0.82, phastCons 1
Regional constraint	o/e 0.60	unconstrained · MANE · 4,788 bp · p 5.7e-12 · regional, not allelic
Overall
CADD	25.9	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

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: DHX30
Protein: p.Arg356Pro
Coding: c.1067G>C
MANE Select: NM_138615
Type: single nucleotide variant
Location: chr3:47845827 (GRCh38)
Gene constraint: LOEUF 0.08 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 81.09 · 1 PDB

Full DHX30 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

Similar variants

DHX30 p.Arg1180Gln Uncertain significance ★★ ⚠ same condition
DHX30 p.Arg412Cys Uncertain significance ★★ ⚠ same condition
DHX30 p.Arg598Cys Uncertain significance ★★ ⚠ same condition
DHX30 p.Asn445Ser Uncertain significance ★★ ⚠ same condition
DHX30 p.Cys1183Ser Uncertain significance ★★ ⚠ same condition
DHX30 p.Glu228Gly Uncertain significance ★★ ⚠ same condition
DHX30 p.Leu650Phe Uncertain significance ★★ ⚠ same condition
DHX30 p.Pro392Leu 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/dhx30-p-arg356pro (accessed [today's date]).

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