Variants
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rs1060500910

  • Uncertain significance

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Description

This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1806 of the TSC2 protein (p.Phe1806Leu). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 405942). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TSC2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

Reference Allele

T


Alternative Allele

C

Chromosome

16


Location

2088602


Variant Type

SNP

Genes

ClinVar

Name

NM_000548.5(TSC2):c.5416T>C (p.Phe1806Leu)


Allele

C


Clinical Significance

Uncertain significance

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