rs1051758
- Conflicting interpretations of pathogenicity
- Likely benign
Your Genotype
Sign InDescription
The p.L1767V variant (also known as c.5299C>G), located in coding exon 41 of the TSC2 gene, results from a C to G substitution at nucleotide position 5299. The leucine at codon 1767 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not 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.
Reference Allele
C
Alternative Allele
A
G
T
Chromosome
16
Location
2088485
Variant Type
SNP
ClinVar
Name
NM_000548.5(TSC2):c.5299C>G (p.Leu1767Val)
Allele
G
Clinical Significance
Conflicting interpretations of pathogenicity
Name
NM_000548.5(TSC2):c.5299C>T (p.Leu1767=)
Allele
T
Clinical Significance
Likely benign