ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1458del (p.Ser487fs) (rs1567437155)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768347 SCV000899045 pathogenic Lymphangiomyomatosis; Focal cortical dysplasia type II; Tuberous sclerosis 2 2018-10-29 criteria provided, single submitter clinical testing TSC2 NM_000548.4 exon 15 p.Ser487Glnfs*48 (c.1458delC): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant creates a premature stop codon 48 amino acids downstream from this location, which results in an absent or abnormal protein. Loss of function variants are a known mechanism of disease for this gene (Rosset 2017 PMID: 28222202). In summary, this variant is classified as pathogenic based on the data above (impact to protein, absence from controls, etc).

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