Is DYNC2H1 p.Arg1265fs (c.3793_3794insA) pathogenic?

DYNC2H1 p.Arg1265fs (c.37933794insA) is classified Pathogenic in DYNC2H1 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-12-28). No gnomAD frequency available for this variant; Associated with Jeune syndrome.

What condition is associated with DYNC2H1 p.Arg1265fs (c.3793_3794insA)?

DYNC2H1 p.Arg1265fs (c.3793_3794insA) is associated with Jeune syndrome (ClinVar).

How common is DYNC2H1 p.Arg1265fs (c.3793_3794insA) in the general population?

DYNC2H1 p.Arg1265fs (c.3793_3794insA) is no gnomAD frequency available for this variant (gnomAD).

DYNC2H1 p.Arg1265fs

c.3793_3794insA · rs2497060831 · VCV2706111

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Jeune syndrome

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 26 of 89
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.6	GERP 2, 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: DYNC2H1
Protein: p.Arg1265fs
Coding: c.3793_3794insA
MANE Select: NM_001377
dbSNP: rs2497060831
Type: Insertion
Location: chr11:103156436 (GRCh38)
Gene constraint: LOEUF 0.859 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Residue 1265: the 'stem' region; an α-helix

Full DYNC2H1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Jeune syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DYNC2H1 p.Arg1265Cys Uncertain significance ★★ same residue
DYNC2H1 p.Arg1265His Conflicting classifications of pathogenicity ★ ⚠ same residue
DYNC2H1 p.Arg1265Leu Conflicting classifications of pathogenicity ★ same residue
DYNC2H1 c.11382+18_11382+19insGGT Benign ★★ same condition
DYNC2H1 c.2947-18_2947-17insGT Likely benign ★★ same condition
DYNC2H1 p.His2415fs Pathogenic ★ same condition
DYNC2H1 p.Leu1514fs Pathogenic ★ same condition
DYNC2H1 p.Ser1559_Leu1560insArgArgSerGlnAspGlyArgIleGlyThrAlaProValTyrSerSerGlnArgGluArgArgArgArgArgXaaXaaXaaXaaLysLysLysLysLysLysLysAspHisSer 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/dync2h1-p-arg1265fs (accessed [today's date]).

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