ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.118A>G (p.Ile40Val)

dbSNP: rs2084683845
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062049 SCV001226821 uncertain significance Tuberous sclerosis 2 2020-12-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 40 of the TSC2 protein (p.Ile40Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. 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. 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. This variant has not been reported in the literature in individuals with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 856562).

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