Variants
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rs755900742

  • Uncertain significance

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Description

This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1778 of the TSC2 protein (p.Ala1778Val). This variant is not present in population databases (gnomAD no frequency). 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: 468159). 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

C


Alternative Allele

A

T

Chromosome

16


Location

2088519


Variant Type

SNP

Genes

ClinVar

Name

NM_000548.5(TSC2):c.5333C>T (p.Ala1778Val)


Allele

T


Clinical Significance

Uncertain significance

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