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Table 1 Variants found in seven patients

From: The clinical phenotypes and genetic characteristics of seven epilepsy patients related to heterozygous DEPDC5 variants in China

No

Gene

Nucleotide change

Amino acid change

Mutation type

ACMG score

ACMG

1

DEPDC5

c.504delG

p.S168Sfs*10

frame-shift variants

PVS1 + PM2

Pathogenic

2

DEPDC5

c.715C > T

p.R239X,1365

truncation variants

PVS1 + PS1 + PM2 + PP3

Pathogenic

3

DEPDC5

c.823A > T

p.K275X,1329

truncation variants

PVS1 + PM2 + PP3 + PP1

Pathogenic

4

DEPDC5

c.947–2(IVS14)A > G

 

splicing site variants

PVS1 + PM2 + PP3

Likely pathogenic

5

DEPDC5

c.2935G > T

p.E979X,625

truncation variants

PVS1 + PM2 + PM

Pathogenic

6

DEPDC5

c.3214G > T

p.E1072X,532

truncation variants

PVS1 + PM2 + PP3

Pathogenic

7

DEPDC5

c.4437–2(IVS41)_c.4437–1(IVS41)insG

 

splicing site variants

PVS1 + PM2

Likely pathogenic