ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3292C>T (p.Pro1098Ser)

dbSNP: rs772686090
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019713 SCV001181105 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-20 criteria provided, single submitter clinical testing The p.P1098S variant (also known as c.3292C>T), located in coding exon 28 of the TSC2 gene, results from a C to T substitution at nucleotide position 3292. The proline at codon 1098 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 RCV001045100 SCV001208933 benign Tuberous sclerosis 2 2023-08-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001045100 SCV002040759 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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