ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1356C>A (p.Phe452Leu)

dbSNP: rs769147552
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532223 SCV000644233 likely benign Tuberous sclerosis 2 2023-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011150 SCV001171439 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-25 criteria provided, single submitter clinical testing The p.F452L variant (also known as c.1356C>A), located in coding exon 12 of the TSC2 gene, results from a C to A substitution at nucleotide position 1356. The phenylalanine at codon 452 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. 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.
GeneDx RCV001770439 SCV002002862 uncertain significance not provided 2023-04-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000532223 SCV002039538 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003470757 SCV004204511 uncertain significance Isolated focal cortical dysplasia type II 2023-10-31 criteria provided, single submitter clinical testing

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