ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5288C>T (p.Pro1763Leu)

gnomAD frequency: 0.00001  dbSNP: rs781139561
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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 RCV001216691 SCV001388501 benign Tuberous sclerosis 2 2023-12-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001216691 SCV003821615 uncertain significance Tuberous sclerosis 2 2021-06-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003380888 SCV004091348 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-27 criteria provided, single submitter clinical testing The p.P1763L variant (also known as c.5288C>T), located in coding exon 41 of the TSC2 gene, results from a C to T substitution at nucleotide position 5288. The proline at codon 1763 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004570484 SCV005054432 uncertain significance Isolated focal cortical dysplasia type II 2024-03-25 criteria provided, single submitter clinical testing

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