. 2022 Jan 19;12:786937. doi: 10.3389/fphar.2021.786937

TABLE 2.

OCA phenotype and genetic variants identified using NGS for each patient.

ID	OCA	Gene	Variant	Protein	Occurrence in database/dbSNP ID/MAF gnomAD (v2.1)	PP	ACMG classification
IP1	OA	HPS3	c.[65C > G]; [1193G > A]	p.Pro22Arg	-	CADD: 29.1	VUS (PM1, PM2)
				p.Pro22Arg	-	MutTaster, PolyPhen2
				p.Cys398Tyr	rs1360046176	CADD: 29.3	VUS (PM1, PM2, PP3)
				p.Cys398Tyr	MAF: 0,0007%	SIFT, MutTaster, PolyPhen2	VUS (PM1, PM2, PP3)
IP2	n.a.	HPS5	c.[760G > T]; [760G > T]	p.Val254Phe	rs752603589	CADD: 28.1	VUS (PM1, PM2, PP3)
IP2	n.a.	HPS5	c.[760G > T]; [760G > T]	p.Val254Phe	MAF:0.004%	SIFT, MutTaster, PolyPhen2	VUS (PM1, PM2, PP3)
IP3	OCA	DTNBP1	c.(355 + 1_356–1)_(488 + 1_489–1)del; c.(355 + 1_356–1)_(488 + 1_489–1)del	no dysbindin expression ¹	-		P (PVS1, PM1, PM2)

Transcripts: HPS3 (NM_032383.3), HPS5 (NM_181507.1), DTNBP1 (NM_032122.4). Abbr.: OCA, oculocutaneous albinism; OA, ocular albinism; n.a., not apparent; PP, in silico pathogenicity prediction; VUS, variant of uncertain significance; P, pathogenic.

Western Blot analysis.