NM_001182.5(ALDH7A1):c.646C>T (p.Leu216Phe) AND Pyridoxine-dependent epilepsy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001337349.6
Allele description [Variation Report for NM_001182.5(ALDH7A1):c.646C>T (p.Leu216Phe)]
NM_001182.5(ALDH7A1):c.646C>T (p.Leu216Phe)
Condition(s)
- Name:
- Pyridoxine-dependent epilepsy (EPEO4)
- Synonyms:
- Pyridoxine dependency; Pyridoxine dependency with seizures; Vitamin B6-dependent seizures; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009945; MedGen: C1849508; Orphanet: 3006; OMIM: 266100
Assertion and evidence details
Last Updated: Sep 29, 2024