Table 2 PDE6B variants causative of retinitis pigmentosa in 15 patients from 14 families.

From: Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients

Family no

Subject no

HGVS DNA change

HGVS protein change

Zygosity

Variant type

ACMG criteria

REVEL score

Bayesian posterior probability

Primary screening method

1

1-III-1

c.1488delC

p.Thr497ProfsTer78

Hetero

Frameshift

PV

PVS1,PM2,PP5,PP4

 

0.999

TGS

  

c.1669C > T

p.His557Tyr

Hetero

Missense

LPV

PM1,PM2,PP3,PP4,PP5

0.991

0.949

 

2

2-III-2

c.1547 T > C

p.Leu516Pro

Hetero

Missense

LPV

PM1,PM2,PP3,PP4,PP5

0.900

0.949

TGS

  

c.1669C > T

p.His557Tyr

Hetero

Missense

LPV

PM1,PM2,PP3,PP4,PP5

0.991

0.949

 

3

3-III-1

c.1669C > T

p.His557Tyr

Homo

Missense

LPV

PM1,PM2,PP3,PP4,PP5

0.991

0.949

TGS

4

4-II-3

c.1669C > T

p.His557Tyr

Homo

Missense

LPV

PM1,PM2,PP3,PP4,PP5

0.991

0.949

TGS

5

5-III-1

c.2395C > T

p.Arg799Ter

Hetero

Nonsense

PV

PVS1,PM2,,PP4,PP5

 

0.999

TGS

  

c.1712C > T

p.Thr571Met

Hetero

Missense

LPV

PM1,PM2,PP3,PP4

0.896

0.899

 

5

5-III-2

c.2395C > T

p.Arg799Ter

Hetero

Nonsense

PV

PVS1,PM2,,PP4,PP5

 

0.999

TGS

  

c.1712C > T

p.Thr571Met

Hetero

Missense

LPV

PM1,PM2,PP3,PP4

0.896

0.899

 

6

6-II-3

c.712delG

p.Val238CysfsTer13

Hetero

Frameshift

PV

PVS1,PM2,PP4

 

0.997

TGS

  

c.2492C > T

p.Ala831Val

Hetero

Missense

VUS

PM2,PP4

 

0.499

 

7

7-II-5

c.1669C > T

p.His557Tyr

Homo

Missense

LPV

PM1,PM2,PP3,PP4,PP5

0.991

0.949

TGS

8

8-II-2

c.1669C > T

p.His557Tyr

Homo

Missense

LPV

PM1,PM2,PP3,PP4,PP5

0.991

0.949

TGS

9

9-II-3

c.1604 T > A

p.Ile535Asn

Homo

Missense

LPV

PM1,PM2,PP3,PP4,PP5

0.818

0.949

TGS

10

10-II-3

c.1280G > A

p.Trp427Ter

Hetero

Nonsense

PV

PVS1,PM2,PP4,PP5

 

0.999

TGS

  

c.1604 T > A

p.Ile535Asn

Hetero

Missense

LPV

PM1,PM2,PP3,PP4,PP5

0.818

0.949

 

11

11-II-5

c.1604 T > A

p.Ile535Asn

Hetero

Missense

LPV

PM1,PM2,PP3,PP4,PP5

0.818

0.949

TGS

  

c.1669C > T

p.His557Tyr

Hetero

Missense

LPV

PM1,PM2,PP3,PP4,PP5

0.991

0.949

 

12

12-II-1

c.1669C > T

p.His557Tyr

Homo

Missense

LPV

PM1,PM2,PP3,PP4,PP5

0.991

0.949

WES

13

13-II-5

c.592G > A

p.Gly198Ser

Hetero

Missense

VUS

PM1,PM2,BP4,PP4

0.412

0.675

WES

  

c.815G > A

p.Arg272Gln

Hetero

Missense

LPV

PM1,PM2,PP3,PP4

0.741

0.899

 

14

14-II-5

c.1669C > T

p.His557Tyr

Homo

Missense

LPV

PM1,PM2,PP3,PP4,PP5

0.991

0.949

WES

  1. ACMG American College of Medical Genetics and Genomics; PV pathogenic variant; LPV likely pathogenic variant; VUS variant of unknown significance; TGS targeted next-generation sequencing; WES whole exome sequencing; HGVS human genome variation society; REVEL rare exome variant ensemble learner.
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