ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1525A>G (p.Thr509Ala)

dbSNP: rs1042656602
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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 RCV001925682 SCV002177586 uncertain significance Tuberous sclerosis 2 2021-08-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with alanine at codon 509 of the TSC2 protein (p.Thr509Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. 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.
All of Us Research Program, National Institutes of Health RCV004804301 SCV005427091 uncertain significance Tuberous sclerosis syndrome 2024-06-11 criteria provided, single submitter clinical testing

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