ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5342C>T (p.Pro1781Leu)

dbSNP: rs878854119
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086979 SCV000285458 benign Tuberous sclerosis 2 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000520770 SCV000619769 likely benign not provided 2023-01-23 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome-Nilou Lab RCV001086979 SCV002040289 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347871 SCV002647063 uncertain significance Hereditary cancer-predisposing syndrome 2020-08-28 criteria provided, single submitter clinical testing The p.P1781L variant (also known as c.5342C>T), located in coding exon 41 of the TSC2 gene, results from a C to T substitution at nucleotide position 5342. The proline at codon 1781 is replaced by leucine, an amino acid with similar properties. This amino acid position is 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.

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