ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4569+2T>A

dbSNP: rs1555514984
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549364 SCV000644552 likely pathogenic Tuberous sclerosis 2 2017-09-27 criteria provided, single submitter clinical testing In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals with a TSC2-related disease. This sequence change affects a donor splice site in intron 35 of the TSC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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