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Table 4 Variants observed in patient 3

From: Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform

Gene

Variant

Relative frequency

PolyPhen-2

SIFT

AGVGD

Grantham score

Splicing

Sanger sequencing

 CDH23 

NM_022124.5:c.8167 G > C Chr10(GRCh37):g.73566027 G > C p.Val2723Leu

0.52

Possibly damaging

Tolerated

Class C0

32

Not affected

/

 OTOF 

NM_194248.2:c.3636_3637del Chr2(NCBI36):g.26549600_26549601del p.Phe1212fs

0.37

/

/

/

/

Frame shift (The new reading frame ends in a STOP codon 78 positions downstream.)

Not confirmed

 

NM_194248.2:c.2317 C > TChr2(NCBI36):g.26553877 C > T p.Arg773Cys rs80356569

0.52

Probably damaging

Not tolerated

Class C25

180

Not affected

Confirmed

 

NM_194248.2:c.4936 C > T Chr2(NCBI36):g.26541265 C > T p.Pro1646Ser rs17005371

0.48

Benign

Not tolerated

Class C65

74

Not affected

Confirmed

 PCDH15 

NM_001142763.1:c.1319A > C Chr10(NCBI36):g.55625450A > C p.Asp440Ala rs4935502

1

Probably damaging

Tolerated

Class C0

126

Not affected

Confirmed