Is DNAJC19 p.Leu67fs (c.198dup) pathogenic?

DNAJC19 p.Leu67fs (c.198dup) is classified Uncertain significance in DNAJC19 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-01-30). Absent from gnomAD.

How common is DNAJC19 p.Leu67fs (c.198dup) in the general population?

DNAJC19 p.Leu67fs (c.198dup) is absent from gnomAD (gnomAD).

DNAJC19 p.Leu67fs

c.198dup · rs2473930224 · VCV2573662

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 4 of 6
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.5	GERP -0.43, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: DNAJC19
Protein: p.Leu67fs
Coding: c.198dup
MANE Select: NM_145261
dbSNP: rs2473930224
Type: Duplication
Location: chr3:180986953 (GRCh38)
Gene constraint: LOEUF 1.547 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 87.50
Residue 67: the j domain

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

Similar variants

DNAJC19 p.Tyr21Ter Pathogenic ★★ same type
DNAJC19 p.Lys57fs Pathogenic ★ same type
DNAJC19 p.Tyr98fs Likely pathogenic ★ same type
DNAJC19 c.280+2dup Conflicting classifications of pathogenicity ★ same type
DNAJC19 p.Ile103fs Uncertain significance ★ same type
DNAJC19 p.Ile99fs Uncertain significance ★ same type
DNAJC19 c.210-305dup Benign ★ same type
DNAJC19 c.281-15dup Benign ★ 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/dnajc19-p-leu67fs (accessed [today's date]).

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