A Novel Missense WFS1 Variant: Expanding the Mutational Spectrum Associated with Nonsyndromic Low-Frequency Sensorineural Hearing Loss

Table 2

Characteristics of WFS1 variant and disease-causing effects based on various medical databases.

Gene symbol	Nucleotide change	Type of variation	Gene subregion	Amino acid; change	MutationTaster	PolyPhen-2	LRT	Fathmm	Pathogenicity
WFS1	c.2530G > T	Missense	Exon 8	p.Ala844Ser	Disease causing	Possibly damaging	Deleterious	Deleterious	VUS

Abbreviations. c: variation at cDNA level; p: variation at protein level; VUS: variant of uncertain significance.