rs1555939403
- Pathogenic
- Likely pathogenic
- Pathogenic
Your Genotype
Sign InDescription
The p.Trp142X variant in SOX10 has not been previously reported in individuals w ith hearing loss or Waardenburg syndrome. Data from large population studies are insufficient to assess the frequency of this variant in the general population. This nonsense variant leads to a premature termination codon at position 142, w hich is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the SOX10 gene is an established disease mechanism in Waardenburg s yndrome. In summary, this variant meets criteria to be classified as pathogenic for Waardenburg syndrome in an autosomal dominant manner based on the predicted impact of the variant.
Reference Allele
C
Alternative Allele
A
G
T
Chromosome
22
Location
37983359
Variant Type
SNP
ClinVar
Name
NM_006941.4(SOX10):c.426G>A (p.Trp142Ter)
Allele
T
Clinical Significance
Pathogenic
Name
NM_006941.4(SOX10):c.426G>C (p.Trp142Cys)
Allele
G
Clinical Significance
Likely pathogenic
Name
NM_006941.4(SOX10):c.426G>T (p.Trp142Cys)
Allele
A
Clinical Significance
Pathogenic