ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu)

dbSNP: rs45517236
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430436 SCV000520881 likely pathogenic not provided 2023-01-06 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 10732801, 31927531, 29642139)
Institute of Human Genetics, University of Leipzig Medical Center RCV001705694 SCV001934416 likely pathogenic Tuberous sclerosis 2 2021-02-11 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
Genome-Nilou Lab RCV001705694 SCV002039654 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001705694 SCV002303061 uncertain significance Tuberous sclerosis 2 2021-12-21 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 816 of the TSC2 protein (p.Pro816Leu). This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 50182). This missense change has been observed in individual(s) with clinical features of tuberous sclerosis complex (PMID: 10732801, 29642139).
Tuberous sclerosis database (TSC2) RCV000043451 SCV000067259 not provided Tuberous sclerosis syndrome no assertion provided curation

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