ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.982C>T (p.Gln328Ter) (rs1554817388)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660333 SCV000782382 likely pathogenic Tuberous sclerosis 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000660333 SCV001209770 pathogenic Tuberous sclerosis 1 2019-02-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln328*) in the TSC1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with clinical features of tuberous sclerosis complex (PMID: 23647917). ClinVar contains an entry for this variant (Variation ID: 547821). Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). For these reasons, this variant has been classified as Pathogenic.

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