Variants
Sign InSign Up

rs778484981

  • Conflicting interpretations of pathogenicity

Your Genotype

Sign In

Description

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

Genes

ClinVar

Name

NM_000548.5(TSC2):c.5396C>T (p.Ser1799Leu)


Allele

T


Clinical Significance

Conflicting interpretations of pathogenicity

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.