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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

NoGeneNucleotide changeAmino acid changeMutation typeACMG scoreACMG
1DEPDC5c.504delGp.S168Sfs*10frame-shift variantsPVS1 + PM2Pathogenic
2DEPDC5c.715C > Tp.R239X,1365truncation variantsPVS1 + PS1 + PM2 + PP3Pathogenic
3DEPDC5c.823A > Tp.K275X,1329truncation variantsPVS1 + PM2 + PP3 + PP1Pathogenic
4DEPDC5c.947–2(IVS14)A > G splicing site variantsPVS1 + PM2 + PP3Likely pathogenic
5DEPDC5c.2935G > Tp.E979X,625truncation variantsPVS1 + PM2 + PMPathogenic
6DEPDC5c.3214G > Tp.E1072X,532truncation variantsPVS1 + PM2 + PP3Pathogenic
7DEPDC5c.4437–2(IVS41)_c.4437–1(IVS41)insG splicing site variantsPVS1 + PM2Likely pathogenic