NM_000191.3(HMGCL):c.735C>A (p.Thr245=) AND Deficiency of hydroxymethylglutaryl-CoA lyase
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000871945.10
Allele description [Variation Report for NM_000191.3(HMGCL):c.735C>A (p.Thr245=)]
NM_000191.3(HMGCL):c.735C>A (p.Thr245=)
Condition(s)
- Name:
- Deficiency of hydroxymethylglutaryl-CoA lyase (HMGCLD)
- Synonyms:
- HMG CoA lyase deficiency; Defect in leucine metabolism; 3-hydroxy-3-methylglutaric aciduria; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009520; MedGen: C0268601; Orphanet: 20; OMIM: 246450
Assertion and evidence details
Last Updated: Oct 13, 2024