Is DNAJC19 p.Pro41fs (c.122del) pathogenic?

DNAJC19 p.Pro41fs (c.122del) is classified Pathogenic in DNAJC19 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-03-16). Associated with 3-methylglutaconic aciduria type 5.

What condition is associated with DNAJC19 p.Pro41fs (c.122del)?

DNAJC19 p.Pro41fs (c.122del) is associated with 3-methylglutaconic aciduria type 5 (ClinVar).

How is Dilated cardiomyopathy with ataxia inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

DNAJC19 p.Pro41fs

c.122del · VCV3646339

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

3-methylglutaconic aciduria type 5

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 3 of 6
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.35	GERP -2, phastCons 1

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

Variant & gene context

Gene: DNAJC19
Protein: p.Pro41fs
Coding: c.122del
MANE Select: NM_145261
Type: Deletion
Location: chr3:180988030 (GRCh38)
Gene constraint: LOEUF 1.547 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 87.50

Full DNAJC19 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

3-methylglutaconic aciduria type 5 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Dilated cardiomyopathy with ataxia (Orphanet):

Inheritance: Autosomal recessive
Onset: Childhood, Infancy

Similar variants

DNAJC19 p.Pro41_Lys42del Uncertain significance ★ same residue
DNAJC19 c.280+1_280+5del Likely pathogenic ★★ same condition
DNAJC19 p.Arg20_Tyr21insTer Pathogenic/Likely pathogenic ★★ same condition
DNAJC19 c.4-24_15del Likely pathogenic ★ same condition
DNAJC19 p.Ala101fs Likely pathogenic ★ same condition
DNAJC19 p.Leu10fs Pathogenic ★ same condition
DNAJC19 p.Leu87_Leu88insTer Pathogenic ★ same condition
DNAJC19 p.Lys34fs Pathogenic ★ 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/dnajc19-p-pro41fs (accessed [today's date]).

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