ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1115T>C (p.Leu372Pro)

dbSNP: rs1060500919
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457917 SCV000544343 likely benign Tuberous sclerosis 2 2023-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017372 SCV001178446 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-12 criteria provided, single submitter clinical testing The p.L372P variant (also known as c.1115T>C), located in coding exon 10 of the TSC2 gene, results from a T to C substitution at nucleotide position 1115. The leucine at codon 372 is replaced by proline, an amino acid with similar properties. This amino acid position is not 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.
Genome-Nilou Lab RCV000457917 SCV002041131 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV002244933 SCV002512848 uncertain significance not provided 2022-04-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 18466115)
Baylor Genetics RCV003463864 SCV004206857 uncertain significance Isolated focal cortical dysplasia type II 2023-09-01 criteria provided, single submitter clinical testing

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