Variants
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rs886039664

  • Pathogenic
  • Pathogenic

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Description

The W142X pathogenic variant in the SOX10 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W142X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret W142X as a pathogenic variant

Reference Allele

C


Alternative Allele

G

T

Chromosome

22


Location

37983360


Variant Type

SNP

Genes

ClinVar

Name

NM_006941.4(SOX10):c.425G>A (p.Trp142Ter)


Allele

T


Clinical Significance

Pathogenic

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