ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.994G>A (p.Glu332Lys)

gnomAD frequency: 0.00001  dbSNP: rs911600402
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559621 SCV000644690 benign Tuberous sclerosis 2 2022-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384165 SCV002692813 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-05 criteria provided, single submitter clinical testing The p.E332K variant (also known as c.994G>A), located in coding exon 10 of the TSC2 gene, results from a G to A substitution at nucleotide position 994. The glutamic acid at codon 332 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. 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.

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