Is CPT1A c.(?_1744 pathogenic?

CPT1A c.(?1744 is classified Pathogenic in CPT1A (ClinVar, No assertion criteria, 2 submitters; last evaluated 2013-03-07). Associated with carnitine palmitoyl transferase 1A deficiency.

What condition is associated with CPT1A c.(?_1744?

CPT1A c.(?_1744 is associated with carnitine palmitoyl transferase 1A deficiency (ClinVar).

How is Carnitine palmitoyl transferase 1A deficiency inherited?

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

CPT1A c.(?_1744

VCV9068

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

Conditions

carnitine palmitoyl transferase 1A deficiency

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Constraint at this position
Conservation	phyloP 9.7	GERP 1, phastCons 1
Non-coding constraint	Z 1.83	1 kb window · o/e 0.87 · regional · uncalibrated

Variant & gene context

Gene: CPT1A
Coding: c.(?_1744
MANE Select: NM_001876
Type: Deletion
Location: chr11:68760260 (GRCh38)
Gene constraint: LOEUF 0.709 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 92.55 · 1 PDB

Full CPT1A gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

carnitine palmitoyl transferase 1A deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Carnitine palmitoyl transferase 1A deficiency (Orphanet):

Inheritance: Autosomal recessive
Onset: Infancy, Neonatal

Similar variants

CPT1A p.Pro672_Phe673insTer Pathogenic/Likely pathogenic ★★ same condition
CPT1A c.556-12del Benign ★★ same condition
CPT1A c.1576-9_1587del Likely pathogenic ★ same condition
CPT1A p.Asn404fs Pathogenic ★ same condition
CPT1A p.Gln188fs Pathogenic ★ same condition
CPT1A p.Gln628fs Likely pathogenic ★ same condition
CPT1A p.Glu196fs Pathogenic ★ same condition
CPT1A p.Glu372fs 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/cpt1a-c-1744 (accessed [today's date]).

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