ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5065A>G (p.Lys1689Glu)

gnomAD frequency: 0.00001  dbSNP: rs137854315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822377 SCV000963177 benign Tuberous sclerosis 2 2023-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336160 SCV002642762 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-02 criteria provided, single submitter clinical testing The p.K1689E variant (also known as c.5065A>G), located in coding exon 38 of the TSC2 gene, results from an A to G substitution at nucleotide position 5065. The lysine at codon 1689 is replaced by glutamic acid, an amino acid with 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.
Tuberous sclerosis database (TSC2) RCV000042701 SCV000066496 not provided Tuberous sclerosis syndrome no assertion provided curation

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