G822R (p.Gly822Arg) variant of SCN8A (Nav1.6)
G822R (p.Gly822Arg) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive inheritance; Global developmental delay; Seizure. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
G822R (p.Gly822Arg) variant details
- p.Gly822Arg
- rs1555225498
- ClinGen CA384884105
- ClinVar RCV001785305
- ClinVar RCV003992554
- Likely pathogenic
- Autosomal recessive inheritance; Global developmental delay; Seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Autosomal recessive inheritance; Global developmental delay; Sei)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an… (PMID 34211152)