Is ROR2 p.Ser29fs (c.79_80del) pathogenic?

ROR2 p.Ser29fs (c.7980del) is classified Pathogenic in ROR2 (ClinVar, No assertion criteria, 1 submitter). No gnomAD frequency available for this variant; Associated with autosomal recessive Robinow syndrome.

What condition is associated with ROR2 p.Ser29fs (c.79_80del)?

ROR2 p.Ser29fs (c.79_80del) is associated with autosomal recessive Robinow syndrome (ClinVar).

How common is ROR2 p.Ser29fs (c.79_80del) in the general population?

ROR2 p.Ser29fs (c.79_80del) is no gnomAD frequency available for this variant (gnomAD).

ROR2 p.Ser29fs

c.79_80del · rs2118125646 · VCV983457

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 1 of 9
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -1.2	GERP -1.5

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: ROR2
Protein: p.Ser29fs
Coding: c.79_80del
MANE Select: NM_004560
dbSNP: rs2118125646
Type: Microsatellite
Location: chr9:91949884 (GRCh38)
Gene constraint: LOEUF 0.543 · pLI 0.35 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 69.09 · 6 PDB

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

Similar variants

ROR2 p.Ser29Phe Uncertain significance ★ ⚠ same residue
ROR2 p.Leu932fs Uncertain significance ★★ same condition
ROR2 c.494+4_494+7del Likely pathogenic same condition
ROR2 c.175+1G>A Likely pathogenic ★★ same condition
ROR2 p.Arg119Ter Pathogenic ★★ same condition
ROR2 p.Arg397Ter Pathogenic ★★ same condition
ROR2 p.Arg442Ter Pathogenic ★★ same condition
ROR2 p.Arg528Ter Pathogenic/Likely 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-ser29fs (accessed [today's date]).

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