ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.596T>C (p.Val199Ala)

dbSNP: rs1555498243
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533114 SCV000644648 uncertain significance Tuberous sclerosis 2 2023-08-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 468169). 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. This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 199 of the TSC2 protein (p.Val199Ala). This variant is not present in population databases (gnomAD no frequency).

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