ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4582G>T (p.Glu1528Ter)

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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 RCV003224752 SCV003920599 pathogenic Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-03-09 criteria provided, single submitter clinical testing This variant has been reported in the literature in 1 individual with a clinical suspicion or diagnosis of tuberous sclerosis (Meng 2020 PMID:32917966). This variant 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 at this codon 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.

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