ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3028C>G (p.Gln1010Glu)

gnomAD frequency: 0.00002  dbSNP: rs45514100
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230846 SCV000285326 likely benign Tuberous sclerosis 2 2023-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018163 SCV001179359 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-20 criteria provided, single submitter clinical testing The p.Q1010E variant (also known as c.3028C>G), located in coding exon 26 of the TSC2 gene, results from a C to G substitution at nucleotide position 3028. The glutamine at codon 1010 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
GeneDx RCV001551091 SCV001771522 uncertain significance not provided 2019-11-14 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000230846 SCV002039709 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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