ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1443+1G>T

dbSNP: rs397515257
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466789 SCV000544510 pathogenic Tuberous sclerosis 2 2016-12-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TSC2 are known to be pathogenic. This particualr variant has been reported in individuals affected with tuberous sclerosis in the Leiden Open-source Variation Database (TSC2-LOVD)(PMID: 21520333). This sequence change affects a donor splice site in intron 14 of the TSC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Tuberous sclerosis database (TSC2) RCV000055570 SCV000083794 not provided Tuberous sclerosis syndrome no assertion provided curation

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