ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5357C>T (p.Pro1786Leu)

dbSNP: rs770117004
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001307897 SCV001497325 benign Tuberous sclerosis 2 2024-04-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255643 SCV002534060 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-09 criteria provided, single submitter curation
Ambry Genetics RCV002255643 SCV005036539 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-28 criteria provided, single submitter clinical testing The p.P1786L variant (also known as c.5357C>T), located in coding exon 41 of the TSC2 gene, results from a C to T substitution at nucleotide position 5357. The proline at codon 1786 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004570726 SCV005054500 uncertain significance Isolated focal cortical dysplasia type II 2023-12-10 criteria provided, single submitter clinical testing

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