ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1057C>G (p.Leu353Val)

dbSNP: rs902767624
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807265 SCV000947309 uncertain significance Tuberous sclerosis 2 2023-09-26 criteria provided, single submitter clinical testing 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 sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 353 of the TSC2 protein (p.Leu353Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 651839). 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.
Ambry Genetics RCV002397650 SCV002713720 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-15 criteria provided, single submitter clinical testing The p.L353V variant (also known as c.1057C>G), located in coding exon 10 of the TSC2 gene, results from a C to G substitution at nucleotide position 1057. The leucine at codon 353 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Baylor Genetics RCV003461167 SCV004204513 uncertain significance Isolated focal cortical dysplasia type II 2023-10-31 criteria provided, single submitter clinical testing

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