Is TH c.91_113del pathogenic?

TH c.91113del is classified Pathogenic in TH (ClinVar, No assertion criteria, 1 submitter; last evaluated 2024-04-22). Associated with TH-deficient dopa-responsive dystonia.

What condition is associated with TH c.91_113del?

TH c.91_113del is associated with TH-deficient dopa-responsive dystonia (ClinVar).

How is Autosomal recessive dopa-responsive dystonia inherited?

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

TH c.91_113del

VCV3602636

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

TH-deficient dopa-responsive dystonia

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 -0.048	GERP -0.49, phastCons 0.68

Variant & gene context

Gene: TH
Coding: c.91_113del
MANE Select: NM_000360
Type: Deletion
Location: chr11:2169849 (GRCh38)
Gene constraint: LOEUF 1.27 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 81.75 · 7 PDB

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

Disease context

TH-deficient dopa-responsive dystonia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Autosomal recessive dopa-responsive dystonia (Orphanet):

Inheritance: Autosomal recessive
Onset: Infancy, Neonatal

Similar variants

TH p.Gln346fs Pathogenic/Likely pathogenic ★★ same condition
TH p.Glu375fs Pathogenic/Likely pathogenic ★★ same condition
TH p.His335fs Likely pathogenic ★★ same condition
TH p.Ser195fs Pathogenic/Likely pathogenic ★★ same condition
TH p.Ser404fs Pathogenic/Likely pathogenic ★★ same condition
TH p.Thr238fs Pathogenic/Likely pathogenic ★★ same condition
TH p.Val18fs Pathogenic/Likely pathogenic ★★ same condition
TH c.977+1del Likely 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/th-c-91-113del (accessed [today's date]).

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