ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5069-2A>G

dbSNP: rs45487291
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815382 SCV000955832 pathogenic Tuberous sclerosis 2 2019-03-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). Disruption of this splice site has been observed in individuals affected with tuberous sclerosis complex (PMID: 10205261, 11112665, 16114042). This variant is also known as IVS38-2A>G, c.5087-2A>G in the literature. ClinVar contains an entry for this variant (Variation ID: 50066). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 39 of the TSC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Revvity Omics, Revvity Omics RCV000815382 SCV002022446 pathogenic Tuberous sclerosis 2 2019-01-17 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043332 SCV000067138 not provided Tuberous sclerosis syndrome no assertion provided curation

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