rs397517920
- Likely pathogenic
Your Genotype
Sign InDescription
The Leu583Pro variant in EYA1 has been identified in two probands with clinical features of Branchio-oto-renal syndrome (BOR), was absent from 85 controls, and segregated with clinical features in one affected family member (Rickard 2000, L MM unpublished data). In addition, this residue is conserved across species, and computational analyses (biochemical amino acid properties, homology, PolyPhen2, SIFT) suggest that the variant may impact the protein. In summary, this variant is likely to be pathogenic.
Reference Allele
A
Alternative Allele
G
Chromosome
8
Location
71199371
Variant Type
SNP
Genes
LOC105375894
ClinVar
Name
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)
Allele
G
Clinical Significance
Likely pathogenic