Table 9.

Variants consistently misclassified with the American College of Medical Genetics and Genomics (ACMG) guidelines and the animal variant classification guidelines (AVCG).

		Shared criteria		Unique criteria		Altered criteria
	AVCG names	PP2	PP4		PP1	PP3
Variant	ACMG names	PP2	PP4	PM2		PP3	Label
CYP11B1:g.84247412G > A (congenital adrenal hyperplasia)	AVCG			NA			VUS
	ACMG				NA		VUS
L2HGDH:g.100207200 T > C (L-2-hydroxyglutaric aciduria)	AVCG			NA			VUS
	ACMG				NA		VUS
MTM1:g.125938001C > T (Myotubular myopathy 1)	AVCG			NA			VUS
	ACMG				NA		VUS
NPC1:g.48250290 T > G (Niemann-Pick disease type C1)	AVCG			NA			VUS
	ACMG				NA		VUS

Underneath each variant, the associated phenotype is mentioned. Only the criteria that were fulfilled, are presented. A green label implies support for a pathogenic classification and is thus considered a positive or correct effect. The criteria are divided in three groups: the ones which remained identical for ACMG and AVCG (“shared” criteria), the ones which are present in only one of those two sets of guidelines (“unique” criteria) and the ones which have been altered to make the AVCG (“altered” criteria). The full criterion corresponding with the names can be found in Table 4. For every variant, there are not enough supporting, moderate and/or strong criteria fulfilled to be classified as likely pathogenic. ACMG, American College of Medical Genetics and Genomics; AVCG, Animal Variant Classification Guidelines; VUS, variant of uncertain significance; NA, not applicable.