Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature

Table 2 Information of the two identified variants in the OSGEP gene

		Population Databases			Predictor scores
Patient	Variant	dbSNP	1000G	gnomAD ƒ	DANN	GERP	LRT	MA	MT	SIFT	PROVEAN	dbNSFP.FATHMM	MetaLR	MetaSVM	Parental segregation confirmed	ACMG (Variant classification)
Patient 1	c.81C > G p.(Asn27Lys)	No	0	0	P	P	P	P	P	P	P	B	B	B	Yes	LP (PM2, PM3, PP1, PP2, PP3, PP4)
Patient 2	c.157A > T p.(Ile53Phe)	rs780944919	0	0.0000979 (South Asians)	P	B	P	P	P	B	P	B	B	B	Yes	LP (PM2, PM3, PP1, PP2, PP4)

1000G 1000 Genomes Project, ƒ Allele Frequency, B Benign, gnomAD genome Aggregation Database, LP Likely Pathogenic, MA MutationAssessor, MT MutationTaster, P Pathogenic

ISSN: 1471-2369