Is SBF2 p.Ile1545= (c.4635T>A) pathogenic?

SBF2 p.Ile1545= (c.4635T>A) is classified Likely benign in SBF2 (ClinVar, Single submitter, 1 submitter). Absent from gnomAD v4.1; Associated with Charcot-Marie-Tooth disease.

What condition is associated with SBF2 p.Ile1545= (c.4635T>A)?

SBF2 p.Ile1545= (c.4635T>A) is associated with Charcot-Marie-Tooth disease (ClinVar).

How common is SBF2 p.Ile1545= (c.4635T>A) in the general population?

SBF2 p.Ile1545= (c.4635T>A) is absent from gnomAD v4.1 (gnomAD).

SBF2 p.Ile1545=

c.4635T>A · rs1852679218 · VCV917186

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Charcot-Marie-Tooth disease

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 3.6	GERP 1.9, phastCons 1
Overall
CADD	8.252	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: SBF2
Protein: p.Ile1545=
Coding: c.4635T>A
MANE Select: NM_030962
dbSNP: rs1852679218
Type: single nucleotide variant
Location: chr11:9790619 (GRCh38)

Full SBF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Charcot-Marie-Tooth disease — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

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/sbf2-p-ile1545 (accessed [today's date]).

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