Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype

Table 2

The candidate variant identified in the family.

Gene symbol	Nucleotide change	Amino acid change	SIFT	PolyPhen-2	MutationTaster	Pathogenicity	ACMG evidence
WFS1	c.2020G>T	p.Gly674Trp	Damaging	Damaging	Damaging	Pathogenic	PM2; PM5; PS4_S; PP1_S; PP3; PP4

PP1_S: PP1_Strong; PS4_S: PS4_Supporting.