ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5415G>C (p.Glu1805Asp)

dbSNP: rs982803529
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001024067 SCV001186022 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-26 criteria provided, single submitter clinical testing The p.E1805D variant (also known as c.5415G>C), located in coding exon 41 of the TSC2 gene, results from a G to C substitution at nucleotide position 5415. The glutamic acid at codon 1805 is replaced by aspartic acid, an amino acid with highly similar 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.
Invitae RCV001223803 SCV001395969 uncertain significance Tuberous sclerosis 2 2019-07-04 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with TSC2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with aspartic acid at codon 1805 of the TSC2 protein (p.Glu1805Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid.
Genome-Nilou Lab RCV001223803 SCV002040905 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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