ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter)

dbSNP: rs118203735
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760329 SCV000890185 pathogenic not provided 2023-05-15 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); Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics, University of Leipzig Medical Center RCV001253033 SCV001428550 likely pathogenic Tuberous sclerosis 1 2018-05-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001253033 SCV002040653 pathogenic Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University RCV001253033 SCV002549093 pathogenic Tuberous sclerosis 1 2022-07-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001253033 SCV003238527 pathogenic Tuberous sclerosis 1 2024-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln936*) in the TSC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis complex (PMID: 36232477). ClinVar contains an entry for this variant (Variation ID: 49002). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC1) RCV000042253 SCV000066040 not provided Tuberous sclerosis syndrome no assertion provided curation

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