ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3493A>G (p.Lys1165Glu)

dbSNP: rs375444767
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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 RCV001020436 SCV001181917 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-23 criteria provided, single submitter clinical testing The p.K1165E variant (also known as c.3493A>G), located in coding exon 29 of the TSC2 gene, results from an A to G substitution at nucleotide position 3493. The lysine at codon 1165 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not 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.
Invitae RCV001229307 SCV001401749 benign Tuberous sclerosis 2 2023-10-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001229307 SCV002040778 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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