ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2417T>C (p.Val806Ala)

gnomAD frequency: 0.00001  dbSNP: rs1285249923
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811110 SCV000951358 benign Tuberous sclerosis 2 2023-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442713 SCV002733788 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-05 criteria provided, single submitter clinical testing The p.V806A variant (also known as c.2417T>C), located in coding exon 21 of the TSC2 gene, results from a T to C substitution at nucleotide position 2417. The valine at codon 806 is replaced by alanine, 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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