Is STARD7 p.Ser266fs (c.796del) pathogenic?

STARD7 p.Ser266fs (c.796del) is classified Uncertain significance in STARD7 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2023-11-16). Absent from gnomAD; Associated with STARD7-related disorder.

What condition is associated with STARD7 p.Ser266fs (c.796del)?

STARD7 p.Ser266fs (c.796del) is associated with STARD7-related disorder (ClinVar).

How common is STARD7 p.Ser266fs (c.796del) in the general population?

STARD7 p.Ser266fs (c.796del) is absent from gnomAD (gnomAD).

STARD7 p.Ser266fs

c.796del · rs2467173011 · VCV3058470

Uncertain significance No assertion criteria

Classification

Uncertain significance

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

STARD7-related disorder

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 6 of 8
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 1.7, 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: STARD7
Protein: p.Ser266fs
Coding: c.796del
MANE Select: NM_020151
dbSNP: rs2467173011
Type: Deletion
Location: chr2:96192416 (GRCh38)
Gene constraint: LOEUF 0.955 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 75.69
Residue 266: the start domain

Full STARD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

STARD7-related disorder

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/stard7-p-ser266fs (accessed [today's date]).

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