ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter) (rs45517213)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201180 SCV000255879 pathogenic Tuberous sclerosis 2 2014-07-01 criteria provided, single submitter clinical testing
Invitae RCV000201180 SCV000826042 pathogenic Tuberous sclerosis 2 2018-07-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp703*) in the TSC2 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 individuals affected with tuberous sclerosis complex (PMID: 10205261, 17304050, 11112665). This variant is also known as G2127A (p.W703X) in the literature. ClinVar contains an entry for this variant (Variation ID: 49736). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000043001 SCV000066799 not provided Tuberous sclerosis syndrome no assertion provided curation

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