rs778484981
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
The p.S1799L variant (also known as c.5396C>T), located in coding exon 41 of the TSC2 gene, results from a C to T substitution at nucleotide position 5396. The serine at codon 1799 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Reference Allele
C
Alternative Allele
A
T
Chromosome
16
Location
2088582
Variant Type
SNP
ClinVar
Name
NM_000548.5(TSC2):c.5396C>T (p.Ser1799Leu)
Allele
T
Clinical Significance
Conflicting interpretations of pathogenicity