Is DBT p.Ile205del (c.612_614del) pathogenic?

DBT p.Ile205del (c.612614del) is classified Uncertain significance in DBT (ClinVar, Single submitter, 1 submitter; last evaluated 2024-05-29). Associated with maple syrup urine disease.

What condition is associated with DBT p.Ile205del (c.612_614del)?

DBT p.Ile205del (c.612_614del) is associated with maple syrup urine disease (ClinVar).

How is Maple syrup urine disease inherited?

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

DBT p.Ile205del

c.612_614del · VCV3668885

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

maple syrup urine disease

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2	GERP -1.7, phastCons 1

Variant & gene context

Gene: DBT
Protein: p.Ile205del
Coding: c.612_614del
MANE Select: NM_001918
Type: Deletion
Location: chr1:100216141 (GRCh38)
Gene constraint: LOEUF 1.255 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 78.71 · 5 PDB
Residue 205: the peripheral subunit-binding (psbd) domain; an α-helix

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

Disease context

maple syrup urine disease — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Maple syrup urine disease (Orphanet):

Inheritance: Autosomal recessive
Onset: Childhood, Infancy, Neonatal
Prevalence: 1-9 / 1 000 000 (Worldwide)

Similar variants

DBT c.434-15_434-4del Pathogenic/Likely pathogenic ★★ same condition
DBT p.Cys26fs Pathogenic ★★ same condition
DBT p.Phe276fs Pathogenic/Likely pathogenic ★★ same condition
DBT p.Thr153fs Pathogenic/Likely pathogenic ★★ same condition
DBT p.Thr388_Thr389insTer Likely pathogenic ★★ same condition
DBT p.Thr91fs Pathogenic ★★ same condition
DBT c.1210-10_1210-9del Benign ★★ same condition
DBT c.1210-10del Benign ★★ 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/dbt-p-ile205del (accessed [today's date]).

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