ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3460A>T (p.Thr1154Ser)

dbSNP: rs1266509754
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001348815 SCV001543133 uncertain significance Tuberous sclerosis 2 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 1154 of the TSC2 protein (p.Thr1154Ser). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
All of Us Research Program, National Institutes of Health RCV004005225 SCV004825817 uncertain significance Tuberous sclerosis syndrome 2023-08-15 criteria provided, single submitter clinical testing

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