Table 4 Clinical and genetic characteristics of cases with suspicious VUS#
Case ID | Pre-test phenotype | Pre-test suspected inheritance pattern | Time of deafness onset | Gene | Allele variants | Variant zygosity | ACMG¥ classification30 | Fulfilled ACMG¥ pathogenicity criteria30 | Gene-associated phenotype | Inheritance patterns of gene-associated phenotypes | Hidden syndrome |
|---|---|---|---|---|---|---|---|---|---|---|---|
OTO.028 | Bilateral non-syndromic sensorineural deafness | AR | Childhood | OTOA | Whole-gene deletion | Heterozygous | Pathogenic (likely pathogenic overriden to pathogenic) | PVS1, PM3 | Non-syndromic sensorineural deafness (DFNB22) | AR | No |
c.1282G > T (p.Val428Phe) | Hemizygous | VUS# | PM2, PM3, PP2 | ||||||||
OTO.044 | Bilateral non-syndromic sensorineural deafness | AR | Congenital | LOXHD1 | c.3571A > G (p.Thr1191Ala) | Homozygous | VUS# | PM2, PP3 | Non-syndromic sensorineural deafness (DFNB77) | AR | No |
OTO.045 | Bilateral non-syndromic sensorineural deafness | AR | Congenital | SLC26A4 | c.695 T > G (p.Leu232Arg) | Homozygous | VUS# | PM1, PM2, PP3 | Non-syndromic sensorineural deafness (DFNB4)/ Pendred syndrome | AR | Potential |