Journal of Ophthalmology

Research Article

Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort

Table 2

The identified variants of RPGRIP1^# in Chinese patients with LCA6.

Patient

Exon

Nucleotide substitution

Amino acid change

Hom/Het

SIFT

PROVEAN

PolyPhen-2

MutationTaster

HSF Matrix

gnomAD

Report

ACMG

Case 1

c.2786A > G

p.Y929C

Het

Damaging

Deleterious

Probably damaging

Disease causing

Alteration of an exonic ESE site, potential alteration of splicing

—

This study

US (PM2, PP1, PP3)

c.2236G > A

p.G746R

Het

Damaging

Deleterious

Probably damaging

Disease causing

Activation of an exonic cryptic acceptor site, with presence of one or more cryptic branch point(s)

0.001441%

rs535695411

Reported

LP (PS1, PM1, PP1, PP3)

Case 2

c.534delG

p.E179Sfs11

Het

—

Disease causing

Alteration of an exonic ESE site, potential alteration of splicing

0.0008747%

—

This study

P (PVS1, PM4, PP1, PP3)

c.2585A > G

p.D862G

Het

Damaging

Deleterious

Possibly damaging

Disease causing

Creation of an exonic ESS site, potential alteration of splicing

—

This study

LP (PM2, PM3, PP1, PP3)

Case 3

c.1467+2T > C

—

Het

—

Disease causing

Alteration of the WT donor site, most probably affecting splicing

—

This study

P (PVS1, PM2, PP3)

c.1954A > G

p.T652A

Het

Damaging

Deleterious

Probably damaging

Disease causing

No impact

—

This study

LP (PM1, PM2, PM3, PP3)

Case 4

c.1151+1G > A

—

Het

—

Disease causing

Alteration of the WT donor site, most probably affecting splicing

0.0004091%

—

This study

P (PVS1, PM3, PP1, PP3)

c.3565C > T

p.R1189

Het

—

Disease causing

Creation of an exonic ESS site, potential alteration of splicing

0.002007%

—

Reported

P (PVS1, PS1, PM4, PP1, PP3)

Case 5

c.562G > T

p.E188

Hom

—

Disease causing

Activation of an exonic cryptic donor site, potential alteration of splicing

—

This study

P (PVS1, PM2, PM4, PP1, PP3)

^#The transcripts of the RPGRIP1 we used in this study for sequencing and reference was NM_020366.4. LP: likely pathogenic; P: pathogenic; US: uncertain significance; -: not available.