ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4550C>T (p.Pro1517Leu)

gnomAD frequency: 0.00001  dbSNP: rs1279603512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222211 SCV001394302 likely benign Tuberous sclerosis 2 2023-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163715 SCV003911463 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-31 criteria provided, single submitter clinical testing The p.P1517L variant (also known as c.4550C>T), located in coding exon 34 of the TSC2 gene, results from a C to T substitution at nucleotide position 4550. The proline at codon 1517 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004010744 SCV004833316 uncertain significance Tuberous sclerosis syndrome 2023-08-15 criteria provided, single submitter clinical testing

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