rs1171556696
- Uncertain significance
Your Genotype
Sign InDescription
The TSC2 c.5303T>A; p.Val1768Glu variant, to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found in the general population with a low overall allele frequency of 0.0004% (1/245676 alleles) in the Genome Aggregation Database, indicating it is not a common polymorphism. The valine at codon 1768 is weakly conserved, but computational analyses (SIFT: Damaging, PolyPhen-2: Benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Val1768Glu variant is uncertain at this time.
Reference Allele
T
Alternative Allele
A
Chromosome
16
Location
2088489
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_000548.5(TSC2):c.5303T>A (p.Val1768Glu)
Allele
A
Clinical Significance
Uncertain significance