Is DNAJC17 p.Arg151Pro (c.452G>C) pathogenic?

DNAJC17 p.Arg151Pro (c.452G>C) is classified Uncertain significance in DNAJC17 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-12-16). AlphaMissense: likely pathogenic (0.6487); Absent from gnomAD v4.1.

How common is DNAJC17 p.Arg151Pro (c.452G>C) in the general population?

DNAJC17 p.Arg151Pro (c.452G>C) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about DNAJC17 p.Arg151Pro (c.452G>C)?

AlphaMissense predicts likely pathogenic (score 0.6487) — an in-silico prediction, not a clinical call.

DNAJC17 p.Arg151Pro

c.452G>C · VCV4722205

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

AlphaMissense

likely pathogenic

0.6487 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

2/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.6487	likely pathogenic
REVEL	0.118	moderately benign-leaning
SaProt	LLR -13.56	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 2.2	GERP 1.6, phastCons 0.98
Regional constraint	o/e 1.00	unconstrained · MANE · 32 kb · p 0.95 · 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: DNAJC17
Protein: p.Arg151Pro
Coding: c.452G>C
MANE Select: NM_018163
Type: single nucleotide variant
Location: chr15:40776222 (GRCh38)
Gene constraint: LOEUF 0.95 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 83.72 · 1 PDB

Full DNAJC17 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

DNAJC17 p.Arg151Cys Uncertain significance ★★ ⚠ same residue
DNAJC17 p.Arg151Leu Uncertain significance ★★ ⚠ same residue
DNAJC17 p.Arg151Gly Uncertain significance ★ ⚠ same residue
DNAJC17 p.Arg151His Uncertain significance ★ ⚠ same residue
DNAJC17 p.Ala227= Uncertain significance ★★ same type
DNAJC17 p.Ala23Glu Uncertain significance ★★ ⚠ same type
DNAJC17 p.Ala35Thr Uncertain significance ★★ ⚠ same type
DNAJC17 p.Arg103Trp Uncertain significance ★★ ⚠ 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/dnajc17-p-arg151pro (accessed [today's date]).

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