ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3356A>G (p.Gln1119Arg)

dbSNP: rs1567500641
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000703754 SCV000832669 uncertain significance Tuberous sclerosis 2 2024-12-09 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1119 of the TSC2 protein (p.Gln1119Arg). 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: 580272). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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 RCV002274092 SCV002559341 uncertain significance not provided 2022-02-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002325426 SCV002607245 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-28 criteria provided, single submitter clinical testing The p.Q1119R variant (also known as c.3356A>G), located in coding exon 28 of the TSC2 gene, results from an A to G substitution at nucleotide position 3356. The glutamine at codon 1119 is replaced by arginine, an amino acid with highly similar 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.
All of Us Research Program, National Institutes of Health RCV004802392 SCV005427181 uncertain significance Tuberous sclerosis syndrome 2024-08-13 criteria provided, single submitter clinical testing This missense variant replaces glutamine with arginine at codon 1119 of the TSC2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with tuberous sclerosis complex in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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