ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4344_4346delinsTT (p.Arg1451fs)

dbSNP: rs1555514354
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537369 SCV000644528 pathogenic Tuberous sclerosis 2 2017-05-26 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 (PMID: 10205261, 17304050). This variant has not been reported in the literature in individuals with a TSC2-related disease, but a different sequence change (c.4351delC) with the same protein effect (p.Arg1451Alafs*25) has been reported in individuals affected with tuberous sclerosis in the Leiden Open-source Variation Database (PMID: 21520333). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg1451Alafs*25) in the TSC2 gene. It is expected to result in an absent or disrupted protein product.

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