Auditory Neuropathy Spectrum Disorder (ANSD)—Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families

Table 3

Pathogenic variants in the OTOF gene identified in this study.

Proband	Nucleotide	Codon alteration	Type	Classification	ACMG evidence	References
1-II-2, 1-II-3	c.2688del	p.Lys896AsnfsTer104	Hom	P	PVS1, PM2, PP3, PP4	This study
2-II-1	c.4960G>A	p.Gly1654Ser	Het	P	PVS1, PM2, PP3, PP4	[26]
	c.1469C>G	p.Pro490Arg	Het	LP	PM2, PM3, PP3, PP4	[23]
3-II-4	c.2977_2978del	p.Gln994ValfsTer7	Het	P	PVS1, PM2, PP3, PP4	[24]
	c.2675A>G	p.Lys892Arg	Het	LP	PM2, PM3, PP3, PP4	This study

Abbreviations: Hom, homozygote; Het, heterozygote; P, pathogenic; LP, likely pathogenic; PM, pathogenic moderate; PP, pathogenic supporting; PVS1, pathogenic strong.