ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1897A>C (p.Asn633His)

gnomAD frequency: 0.00001  dbSNP: rs1462660984
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049821 SCV001213894 benign Tuberous sclerosis 2 2023-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307851 SCV003988598 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-05 criteria provided, single submitter clinical testing The p.N633H variant (also known as c.1897A>C), located in coding exon 17 of the TSC2 gene, results from an A to C substitution at nucleotide position 1897. The asparagine at codon 633 is replaced by histidine, 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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