ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5296C>T (p.Pro1766Ser)

gnomAD frequency: 0.00001  dbSNP: rs779621136
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569459 SCV000675668 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-15 criteria provided, single submitter clinical testing The p.P1766S variant (also known as c.5296C>T), located in coding exon 41 of the TSC2 gene, results from a C to T substitution at nucleotide position 5296. The proline at codon 1766 is replaced by serine, an amino acid with similar properties. This amino acid position is not 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.
Invitae RCV000702221 SCV000831066 benign Tuberous sclerosis 2 2024-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532311 SCV001747816 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000702221 SCV002040276 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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