Skip to main content

Table 4 Clinical and genetic characteristics of cases with suspicious VUS#

From: Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

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
  1. #Variant/s of unknown significance
  2. ¥American College of Medical Genetics and Genomics