ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1367A>G (p.Glu456Gly)

gnomAD frequency: 0.00001  dbSNP: rs876659386
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213492 SCV000275782 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-14 criteria provided, single submitter clinical testing The p.E456G variant (also known as c.1367A>G), located in coding exon 13 of the TSC2 gene, results from an A to G substitution at nucleotide position 1367. The glutamic acid at codon 456 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000473388 SCV000544302 benign Tuberous sclerosis 2 2023-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000473388 SCV002040603 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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