ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1213G>C (p.Glu405Gln)

gnomAD frequency: 0.00001  dbSNP: rs765622787
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226213 SCV000285230 likely benign Tuberous sclerosis 2 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568157 SCV000675696 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-04 criteria provided, single submitter clinical testing The p.E405Q variant (also known as c.1213G>C), located in coding exon 11 of the TSC2 gene, results from a G to C substitution at nucleotide position 1213. The glutamic acid at codon 405 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well 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.
Genome-Nilou Lab RCV000226213 SCV002041137 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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