Is BBS7 p.Arg587fs (c.1759_1760del) pathogenic?

BBS7 p.Arg587fs (c.17591760del) is classified Likely pathogenic in BBS7 (ClinVar, Single submitter, 1 submitter; last evaluated 2026-03-12). Associated with focal segmental glomerulosclerosis.

What condition is associated with BBS7 p.Arg587fs (c.1759_1760del)?

BBS7 p.Arg587fs (c.1759_1760del) is associated with focal segmental glomerulosclerosis (ClinVar).

BBS7 p.Arg587fs

c.1759_1760del · VCV4813869

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

focal segmental glomerulosclerosis

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 16 of 19
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.1	GERP 1, phastCons 1

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

Variant & gene context

Gene: BBS7
Protein: p.Arg587fs
Coding: c.1759_1760del
MANE Select: NM_176824
Type: Deletion
Location: chr4:121828645 (GRCh38)
Gene constraint: LOEUF 0.701 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 92.99

Full BBS7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

focal segmental glomerulosclerosis — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BBS7 p.Arg587= Likely benign same residue
BBS7 c.1306-1_1308del Pathogenic/Likely pathogenic ★★ same type
BBS7 p.Ala194del Pathogenic/Likely pathogenic ★★ same type
BBS7 p.Asn130fs Pathogenic ★★ same type
BBS7 p.Asn335fs Pathogenic ★★ same type
BBS7 p.Gln657fs Pathogenic ★★ same type
BBS7 p.Pro25fs Pathogenic/Likely pathogenic ★★ same type
BBS7 p.Val531_Pro532del 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/bbs7-p-arg587fs (accessed [today's date]).

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