ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1976C>G (p.Thr659Ser)

gnomAD frequency: 0.00001  dbSNP: rs755847664
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804262 SCV000944162 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422754 SCV002723529 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-05 criteria provided, single submitter clinical testing The p.T659S variant (also known as c.1976C>G), located in coding exon 18 of the TSC2 gene, results from a C to G substitution at nucleotide position 1976. The threonine at codon 659 is replaced by serine, 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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