ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.336+1G>A (rs45517102)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476030 SCV000544583 pathogenic Tuberous sclerosis 2 2016-08-23 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the TSC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic. This variant has been reported in the literature in two individuals form a single family affected with tuberous sclerosis complex (TSC) (PMID: 12015165). It has also been reported in the Leiden Open-source Variation Database in individuals affected with TSC. In one of these individuals this variant was reported to arise de novo (PMID: 21520333). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000043330 SCV000067136 not provided Tuberous sclerosis syndrome no assertion provided curation

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