ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2261C>T (p.Pro754Leu)

dbSNP: rs2088690950
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University RCV002274817 SCV002559804 likely pathogenic Tuberous sclerosis 2 2022-07-19 criteria provided, single submitter clinical testing According to ACMG GL 2015, this variant located in Hamartin binding domain (PM1), absent from controls (PM2), assumed de novo (PM6), multiple lines of computational evidence support a deleterious effect (PP3).
GeneDx RCV004770435 SCV005378762 uncertain significance not provided 2023-12-14 criteria provided, single submitter clinical testing Observed once in the mosaic state in a cohort of individuals with a clinical diagnosis or suspected tuberous sclerosis complex; however, the patient's phenotype and family history were not specified (PMID: 36232477); 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; This variant is associated with the following publications: (PMID: 36232477)

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