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Table 4 Summary of variants with uncertain pathogenicity

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

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