Is GORAB p.Pro30fs (c.87_207delinsGGAGGTCTCT…[48 bp]) pathogenic?

GORAB p.Pro30fs (c.87207delinsGGAGGTCTCT…[48 bp]) is classified Likely pathogenic in GORAB (ClinVar, Single submitter, 1 submitter; last evaluated 2022-09-27). No gnomAD frequency available for this variant.

How common is GORAB p.Pro30fs (c.87_207delinsGGAGGTCTCT…[48 bp]) in the general population?

GORAB p.Pro30fs (c.87_207delinsGGAGGTCTCT…[48 bp]) is no gnomAD frequency available for this variant (gnomAD).

GORAB p.Pro30fs

c.87_207delinsGGAGGTCTCT…[48 bp] · rs2101820716 · VCV1183320

Likely pathogenic Single submitter

Classification

Likely pathogenic

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 2 of 5
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -1.2	GERP -0.28

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: GORAB
Protein: p.Pro30fs
Coding: c.87_207delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC
MANE Select: NM_152281
dbSNP: rs2101820716
Type: Indel
Location: chr1:170539235 (GRCh38)
Gene constraint: LOEUF 0.802 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 71.86
Residue 30: the 'disordered' region

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

Similar variants

GORAB p.Pro30_Ser57delinsGluValSerGly Uncertain significance ★ same residue
GORAB p.Pro30Ala Uncertain significance ★★ same residue
GORAB p.Pro30His Uncertain significance ★★ same residue
GORAB p.Pro30= Likely benign ★★ same residue
GORAB p.Pro30Thr Uncertain significance ★ same residue
GORAB p.Lys266Gln Uncertain significance ★ same type
GORAB p.Pro86_Ser87delinsArgGly Uncertain significance ★ same type
GORAB p.Met(?_1 Pathogenic/Likely pathogenic 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/gorab-p-pro30fs (accessed [today's date]).

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