ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2341C>T (p.Gln781Ter) (rs118203680)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473593 SCV000552248 pathogenic Tuberous sclerosis 1 2016-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 781 (p.Gln781*) of 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 has been reported in individuals with Tuberous sclerosis complex (TSC) in the Leiden Open-source Variation Database (PMID: 21520333). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC1) RCV000042192 SCV000065978 not provided Tuberous sclerosis syndrome no assertion provided curation

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