Variants
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rs45506695

  • Conflicting interpretations of pathogenicity
  • Uncertain significance

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Description

<span style="font-family:arial,sans-serif; font-size:9pt">The <span style="font-family:arial,sans-serif">p.R1793Q variant (also known as c.5378G>A), located in coding exon 41 of the <span style="font-family:arial,sans-serif">TSC2 gene, results from a G to A substitution at nucleotide position 5378. The arginine at codon 1793 is replaced by glutamine, an amino acid with highly similar properties. This alteration was detected in a female with familial TSC who was reported to have seizures, brain tubers, and hypomelanotic macules. This alteration was reported to co-segregate with TSC in her family and was not found in 100 healthy controls; however, there is no direct evidence of pathogenicity (Hung CC, <span style="font-family:arial,sans-serif">BMC Med. Genet. 2006; 7:72). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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

G


Alternative Allele

A

C

Chromosome

16


Location

2088564


Variant Type

SNP

Genes

ClinVar

Name

NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln)


Allele

A


Clinical Significance

Conflicting interpretations of pathogenicity

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