ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2534A>G (p.Glu845Gly)

gnomAD frequency: 0.00002  dbSNP: rs764608837
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000458545 SCV000544512 likely benign Tuberous sclerosis 2 2024-11-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257697 SCV002531077 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-13 criteria provided, single submitter curation
GeneDx RCV002291628 SCV002584119 uncertain significance not provided 2022-10-13 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
Ambry Genetics RCV002257697 SCV002740545 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-31 criteria provided, single submitter clinical testing The p.E845G variant (also known as c.2534A>G), located in coding exon 21 of the TSC2 gene, results from an A to G substitution at nucleotide position 2534. The glutamic acid at codon 845 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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 RCV003463868 SCV004206807 uncertain significance Isolated focal cortical dysplasia type II 2023-10-09 criteria provided, single submitter clinical testing

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