NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) AND Encephalopathy due to GLUT1 deficiency
- Germline classification:
- Pathogenic/Likely pathogenic (4 submissions)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000517267.5
Allele description [Variation Report for NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)]
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)
Condition(s)
- Name:
- Encephalopathy due to GLUT1 deficiency
- Synonyms:
- GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER; De Vivo disease; Glucose transporter protein syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011724; MedGen: C4551966; Orphanet: 71277; OMIM: 606777
Assertion and evidence details
Last Updated: Jan 13, 2025