ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3284+1G>A (rs45517289)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690660 SCV000818358 likely pathogenic Tuberous sclerosis 2 2018-06-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 28 of the TSC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with tuberous sclerosis complex (PMID: 21811971). ClinVar contains an entry for this variant (Variation ID: 50057). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728085 SCV000855617 pathogenic not provided 2017-07-13 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043323 SCV000067129 not provided Tuberous sclerosis syndrome no assertion provided curation

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