Table 3.

Variants segregation and pathogenicity assessment according to the ACMG guidelines.

Patient ID	Mutation	Segregation	Pathogenic criteria				Benin criteria	ACMG Classification
			Very Strong (PVS1)	Strong (PS1-PS4)	Moderate (PM1-PM6)	Supporting (PP1-PP5)	Strong (BS1-BS4)
P1	CIB2-Arg104Ter	Yes	PVS1	–	PM2-PP1*	PP3	–	Pathogenic
P2	ESRRB-Tyr295Cys	Yes	–	–	PM2-PP1*	PP3	–	Likely Pathogenic
P3	WHRN-Gly808AspfsX11	Yes	PVS1	PP1**	PM2	–	–	Pathogenic
P4	OTOF-Glu57Ter	Yes	PVS1	PP1** PP5***	PM2	PP3	–	Pathogenic
P5	MYO15A-Phe2089Leu	yes	–	PP1**	PM1-PM2	PP2-PP3	–	Pathogenic
P6	SLC22A4-Cys113Tyr	yes	–	PS3-PP1**		PP3	–	Pathogenic
P7	PNPT1-Glu475Gly	yes	–	PP1**	PM2	PP3-PP5	–	Pathogenic
P8	OTOA-Val603Phe	No	–	–	PM2	–	BS4	Uncertain significance
P9	TMC1- Met195Arg	No	–	–	PM2	PP3	BS4	Uncertain significance
P10	USH1C- Gln122Ter	Yes	PVS1	PP1**	PM2	–	–	Pathogenic
P11	MYO7A-Tyr560Cys	yes	–	PP1**	PM1-PM2	PP2-PP3	–	Pathogenic
P12	MYO7A - SS	Yes	PVS1	PP5***	PM2	PP1-PP3	–	Pathogenic
	MYO7A - SS	yes	PVS1	PP5***	PM2	PP1-PP3	–	Pathogenic

* PP1 Moderate: CIB2 and ESRRB (2 affected members).

** PP1 Strong: WHRN, OTOF and USH1C (3 affected members).

***PP5 using strength “Strong” because ClinVar classifies this variant as Pathogenic.

SS : Splice Site Variant.