Table. 1 Recurrent variants identified in the cohort.

From: Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

Recurrent variants n Broad phenotype (individuals) Variant class Location
p.R853Q 18 DEE (16)
ASD (2)
Missense Helical repeat II
p.A263V 14 DEE (8)
BFNIS (5)
ASD (1)
Missense Helical repeat I
p.R1882Q 10 DEE (10) Missense Cytoplasmic
p.E999K 8 DEE (7)
Other epilepsy (1)
Missense Cytoplasmic
p.L1342P 5 DEE (5) Missense Helical repeat III
p.R1319Q 5 BFNIS (3)
DEE (2)
Missense Helical repeat III
p.L1650P 4 Atypical (3)
DEE (1)
Missense Cytoplasmic
p.M1545V 4 DEE (3)
Other epilepsy (1)
Missense Helical repeat IV
p.R1629H 4 DEE (3)
BFNIS (1)
Missense Helical repeat IV
p.V261M 4 DEE (2)
BFNIS (2)
Missense Helical repeat I
p.E1211K 3 DEE (3) Missense Helical repeat III
p.E1321K 3 BFNIS (2)
ASD (1)
Missense Cytoplasmic
p.M136I 3 DEE (3) Missense Helical repeat I
p.R102* 3 DEE (2)
Atypical (1)
Nonsense Cytoplasmic
p.R1319L 3 DEE (2)
Other epilepsy (1)
Missense Helical repeat III
p.R1435* 3 ASD (2)
DEE (1)
Nonsense Extracellular
p.R36G 3 BFNIS (2)
Other epilepsy (1)
Missense Cytoplasmic
p.R856Q 3 DEE (3) Missense Helical repeat II
p.R937C 3 ASD (2)
Atypical (1)
Missense Pore-forming
p.S1336Y 3 DEE (3) Missense Cytoplasmic
p.S987I 3 DEE (1)
BFNIS (1)
Other epilepsy (1)
Missense Cytoplasmic
  1. Variants identified three or more times in the sample with class and location. Broad phenotype refers to categories described in Supplementary Table 2.
  2. ASD autism spectrum disorder, BFNIS benign familial neonatal–infantile seizures, DEE developmental and epileptic encephalopathies.