ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1204G>T (p.Gly402Trp)

dbSNP: rs771561593
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001202253 SCV001373359 uncertain significance Tuberous sclerosis 2 2024-04-23 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 933939). 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 with a negative predictive value of 95%. 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.
GeneDx RCV001751371 SCV001997540 uncertain significance not provided 2023-11-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001202253 SCV002040599 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258155 SCV002532757 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-23 criteria provided, single submitter curation
Ambry Genetics RCV002258155 SCV002648814 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-28 criteria provided, single submitter clinical testing The p.G402W variant (also known as c.1204G>T), located in coding exon 11 of the TSC2 gene, results from a G to T substitution at nucleotide position 1204. The glycine at codon 402 is replaced by tryptophan, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004570417 SCV005054471 uncertain significance Isolated focal cortical dysplasia type II 2024-01-24 criteria provided, single submitter clinical testing

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