Hemizygous deletion in the OTC gene results in ornithine transcarbamylase deficiency: A case report

Table 2 Classification of the variants in OTC according to ACMG

Gene	Variant	Inheritance	MAF			SIFT	Polyphen2	Mutation taster	Evidence	ACMG category
			ExAc	gnomAD	1000 genomes
OTC	c.970_979del	Hemi	NE	NE	NE	-	-	-	PS2 + PM2_supporting + PP3	Likely pathogenic
	TTCCCAGAGG

Transcript: NM_000531.5; MAF: Minor allele frequency; NE: Not existing.