Variants
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rs1339336077

  • Uncertain significance

Your Genotype

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Description

The p.Ser24Tyr variant in SOX10 has not been previously reported in individuals with Waardenburg syndrome and was absent from large population studies. Computat ional prediction tools and conservation analyses do not provide strong support f or or against an impact to the protein. In summary, the clinical significance of the p.Ser24Tyr variant is uncertain. ACMG/AMP criteria applied: PM2

Reference Allele

G


Alternative Allele

T

Chromosome

22


Location

37983714


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_006941.4(SOX10):c.71C>A (p.Ser24Tyr)


Allele

T


Clinical Significance

Uncertain significance

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