Variants
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rs1555939403

  • Pathogenic
  • Likely pathogenic
  • Pathogenic

Your Genotype

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Description

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

Genes

ClinVar

Name

NM_006941.4(SOX10):c.426G>A (p.Trp142Ter)


Allele

T


Clinical Significance

Pathogenic

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