Is SBF2 p.Val115fs (c.340_341dup) pathogenic?

SBF2 p.Val115fs (c.340341dup) is classified Likely pathogenic in SBF2 (ClinVar, Single submitter, 1 submitter; last evaluated 2020-12-13). Associated with Charcot-Marie-Tooth disease type 4B2.

What condition is associated with SBF2 p.Val115fs (c.340_341dup)?

SBF2 p.Val115fs (c.340_341dup) is associated with Charcot-Marie-Tooth disease type 4B2 (ClinVar).

How is Charcot-Marie-Tooth disease type 4B2 inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

SBF2 p.Val115fs

c.340_341dup · VCV3896983

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Charcot-Marie-Tooth disease type 4B2

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 4 of 40
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 3.5	GERP 1.8, phastCons 1

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

Variant & gene context

Gene: SBF2
Protein: p.Val115fs
Coding: c.340_341dup
MANE Select: NM_030962
Type: Duplication
Location: chr11:10031108 (GRCh38)
Gene constraint: LOEUF 0.591 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 73.74
Residue 115: the udenn domain

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

Disease context

Charcot-Marie-Tooth disease type 4B2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Charcot-Marie-Tooth disease type 4B2 (Orphanet):

Inheritance: Autosomal recessive
Onset: Childhood

Similar variants

SBF2 p.Ile273fs Likely pathogenic ★ same condition
SBF2 p.Pro636fs Likely pathogenic ★ same condition
SBF2 p.Val115Gly Uncertain significance ★ ⚠ same residue
SBF2 p.Val115Leu Uncertain significance ★ ⚠ same residue
SBF2 c.1601-2A>G Pathogenic/Likely pathogenic ★★ same condition
SBF2 c.3653-1G>A Likely pathogenic ★★ same condition
SBF2 p.Arg342Ter Pathogenic/Likely pathogenic ★★ same condition
SBF2 p.Arg356Ter 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/sbf2-p-val115fs (accessed [today's date]).

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