Is ROR2 p.His362fs (c.1083dup) pathogenic?

ROR2 p.His362fs (c.1083dup) is classified Likely pathogenic in ROR2 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-05-21). Associated with autosomal recessive Robinow syndrome.

What condition is associated with ROR2 p.His362fs (c.1083dup)?

ROR2 p.His362fs (c.1083dup) is associated with autosomal recessive Robinow syndrome, brachydactyly type B1 (ClinVar).

ROR2 p.His362fs

c.1083dup · VCV3597761

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

autosomal recessive Robinow 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 7 of 9
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 1.8, phastCons 1

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

Variant & gene context

Gene: ROR2
Protein: p.His362fs
Coding: c.1083dup
MANE Select: NM_004560
Type: Duplication
Location: chr9:91731009 (GRCh38)
Gene constraint: LOEUF 0.543 · pLI 0.35 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 69.09 · 6 PDB
Residue 362: the kringle domain

Full ROR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

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

Also linked: brachydactyly type B1

Similar variants

ROR2 p.His362Gln Uncertain significance ★ ⚠ same residue
ROR2 p.His362= Likely benign ★★ same residue
ROR2 p.Leu456fs Pathogenic ★ same condition
ROR2 p.Met402fs Pathogenic ★ same condition
ROR2 p.Thr876fs Conflicting classifications of pathogenicity same condition
ROR2 c.175+1G>A Likely pathogenic ★★ same condition
ROR2 p.Arg119Ter Pathogenic ★★ same condition
ROR2 p.Arg397Ter 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/ror2-p-his362fs (accessed [today's date]).

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