ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4806G>T (p.Glu1602Asp)

dbSNP: rs1177233720
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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 RCV000566900 SCV000675782 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-20 criteria provided, single submitter clinical testing The p.E1602D variant (also known as c.4806G>T), located in coding exon 36 of the TSC2 gene, results from a G to T substitution at nucleotide position 4806. The glutamic acid at codon 1602 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is not 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 RCV001326558 SCV001517595 uncertain significance Tuberous sclerosis 2 2023-08-24 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 486702). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 1602 of the TSC2 protein (p.Glu1602Asp).
Genome-Nilou Lab RCV001326558 SCV002040855 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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