Skip to main content

Table 1 Rare Variants identified in SADS Cases

From: Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy

SADS Case ID

Variant

HGMD ID

dbSNP ID

Transcript change

Amino Acid change

ACMG Classification

KCNE1 (NM_000219.5/NP_000210.2)

 314

A

 

rs75610894

c.142C > T

p.L48F

VUS

KCNE2 (NM_172201.1/NP_751951.1)

 756

B

CM003449

rs2234916

c.22A > G

p.T8A

VUS

KCNH2 (NM_000238.3/NP_000229.1)

 998

C

CM057124

rs199473420

c.211G > C

p.G71R

Likely Pathogenic

 217

D

CM002298

rs138776684

c.1039C > T

p.P347S

VUS

 411

E

  

c.2564G > A

p.S855 N

VUS

 714

F

CM057119

rs199473017

c.2903C > T

p.P968L

VUS

KCNQ1 (NM_000218.2/NP_000209.2)

 907

G

CM139859

rs794728567

c.969G > A

p.W323*

Likely Pathogenic

 1006

H

CM078293

rs12720457

c.1179G > C

p.K393 N

VUS

 910

I

 

rs199472783

c.1379G > A

p.G460D

VUS

 1012

J

 

rs794728542

c.1829C > A

p.T610 N

VUS

RYR2 (NM_001035.2 /NP_001026.2)

 725

K

 

rs766802574

c.458C > T

p.T153I

Likely Pathogenic

 9

L

CM097927

rs794728721

c.1259G > A

p.R420Q

Pathogenic

 36

M

  

c.5248G > A

p.G1750R

Likely Pathogenic

 916

N

 

rs397516546

c.5825 T > G

p.F1942C

VUS

 306

O

CM056049

rs794728756

c.7202G > A

p.R2401H

Likely Pathogenic

 914

P

 

rs377763795

c.7458 T > G

p.H2486Q

VUS

 708#

Q

CM1515197

rs201500134

c.8162 T > C

p.I2721T

VUS

 $ &

R

 

rs117180147

c.10231-4 T > C

 

VUS

 403

S

  

c.10681C > G

p.L3561 V

Likely Pathogenic

 759

T

CM024349

rs794728777

c.11836G > A

p.G3946S

Pathogenic

 38

U

CM148846

 

c.13823G > A

p.R4608Q

Pathogenic

SCN5A (NM_198056.2/NP_932173.1)

 1034

V

CM033019

rs45620037

c.659C > T

p.T220I

Likely Pathogenic

 746&

W

CM034060

rs36210423

c.1715C > A

p.A572D

Likely Benign

 727

X

 

rs72549411

c.2437-5C > A

 

VUS

 738

Y

CM086913

rs41311117

c.6010 T > C

p.F2004 L

VUS

 708#

Z

CM004144

rs45489199

c.6016C > G

p.P2006A

VUS

  1. Details of multi-ethnic SADS cohort cases carrying rare variants in major ion channel disease risk-genes: HGMD and dbSNP identifier; transcript and amino acid changes; pathogenicity of variant (ACMG criteria). Abbreviations: VUS = variant of uncertain significance. Annotations: $ = SADS cases 703, 715,722,731,745, 746; #& = double heterozygotes for rare variation