rs748234376
- Uncertain significance
Your Genotype
Sign InDescription
The p.Arg258Gln variant in SOX10 has not been reported in individuals with heari ng loss or Waardenburg syndrome, but has been identified in 8/34416 Latino chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs748234376). Although this variant has been seen in the general popu lation, its frequency is not high enough to rule out a pathogenic role. Computat ional prediction tools and conservation analysis suggest that the p.Arg258Gln va riant may impact the protein, though this information is not predictive enough t o determine pathogenicity. In summary, the clinical significance of the p.Arg258 Gln variant is uncertain.
Reference Allele
C
Alternative Allele
A
T
Chromosome
22
Location
37974123
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_006941.4(SOX10):c.773G>A (p.Arg258Gln)
Allele
T
Clinical Significance
Uncertain significance