ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter)

dbSNP: rs45476100
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001252981 SCV001428468 likely pathogenic Tuberous sclerosis 2 2019-01-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001252981 SCV002241301 pathogenic Tuberous sclerosis 2 2021-03-02 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of tuberous sclerosis complex (PMID: 26540169). ClinVar contains an entry for this variant (Variation ID: 49580). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln883*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant is not present in population databases (ExAC no frequency).
GeneDx RCV002255124 SCV002526567 pathogenic not provided 2022-06-15 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; This variant is associated with the following publications: (PMID: 24271014, 31160751, 32017698, 26540169)
Tuberous sclerosis database (TSC2) RCV000042841 SCV000066637 not provided Tuberous sclerosis syndrome no assertion provided curation

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