NM_000817.3(GAD1):c.1402T>G (p.Trp468Gly) AND Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 26, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001836925.9
Allele description [Variation Report for NM_000817.3(GAD1):c.1402T>G (p.Trp468Gly)]
NM_000817.3(GAD1):c.1402T>G (p.Trp468Gly)
Condition(s)
Assertion and evidence details
Last Updated: Jul 7, 2024