Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis

Table 2 Pathogenic variants and likely pathogenic variants of East Asians and Koreans in gnomAD and KRGDB

Nucleotide change	Amino acid change	KRGDB allele frequency (n = 1,722)	gnomAD									REVEL	2015 ACMG/AMP (criteria)	Reference
			Korean	East Asian	African	Latino	Ashkenazi Jewish	European (Finnish)	European (non-Finnish)	Other	South Asian
			(n = 1,909)	(n = 9,197)	(n = 8,128)	(n = 17,296)	(n = 5,040)	(n = 10,824)	(n = 56,885)	(n = 3,070)	(n = 15,308)
c.1451G > A	p.Gly484Asp	0	0	5.45E-05	0	0	0	0	9.01E-06	0	0	0.984	LPV (PM1, PM2, PM3, PP3)	[30]
c.1399 C > G	p.Pro467Ala	0	0	1.09E-04	0	0	0	0	0	0	0	0.8909	LPV (PM1, PM2, PM3, PP3)	[31]
c.858 + 1del	p.?	0	0	5.44E-05	0	0	0	0	0	0	0	-	LPV (PVS1, PM2)	[31]
c.858 + 1G > T	p.?	4.55E-04	0	0	0	0	0	0	0	0	0	-	LPV (PVS1, PM2)	[20]
c.545 A > G	p.His182Arg	0	0	5.44E-05	0	0	0	0	0	0	0	0.8999	LPV (PM1, PM2, PM3_supporting, PP3)	[32]
c.335G > A	p.Cys112Tyr	0	2.62E-04	5.44E-05	0	0	0	0	0	0	0	0.9169	LPV (PM1, PM2, PS3_moderate, PM3_supporting, PP3)	[19]
c.272G > A	p.Arg91Gln	0	0	5.44E-05	3.70E-04	0	0	0	1.76E-05	0	6.54E-05	0.6589	LPV (PM1, PM3, PM5)	[33]
c.271 C > T	p.Arg91Trp	0	0	1.09E-04	3.70E-04	2.89E-05	0	0	3.52E-05	0	3.27E-05	0.8519	LPV (PM1, PM3, PS1_moderate, PP3)	[34]
c.200T > G	p.Leu67Arg	0	0	5.44E-05	0	0	0	0	0	0	0	0.98	LPV (PM1, PM2, PM3, PP3)	[35]

gnomAD Genome Aggregation Database, KRGDB Korean Reference Genome Database, 2015 ACMG/AMP 2015 American College of Medical Genetics and Genomics and Association for Molecular Pathology guidelines, LPV likely pathogenic variant

ISSN: 1750-1172