Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study

Table 4 Summary of variants with uncertain pathogenicity

Gene	Nucleotide change	Amino acid change	NCBI ID	dbSNP135	Allele frequency in 1000GENOME	Allele frequency in ESP6500	Allele frequency in Japanese control	PolyPhen-2 prediction (score)	PROVEAN prediction (score)	Pathogenicity	Family	Reference
DFNA5	c.781C>T	p.R261X	NM_004403.2	None	-	0	0/192	-	-	Uncertain	2
USH2A	c.1346G>A	p.R449H	NM_206933.2	None	-	0	5/378	Benign (0.017)	Neutral (-0.880)	Uncertain	7

ISSN: 1750-1172