Variants
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rs2091211512

  • Uncertain significance

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Description

This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1791 of the TSC2 protein (p.Gly1791Asp). 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: 962136). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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

G


Alternative Allele

A

Chromosome

16


Location

2088558


Variant Type

SNP

Genes

ClinVar

Name

NM_000548.5(TSC2):c.5372G>A (p.Gly1791Asp)


Allele

A


Clinical Significance

Uncertain significance

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