ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2626-2A>G (rs118203717)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793960 SCV000933341 likely pathogenic Tuberous sclerosis 1 2018-12-17 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 20 of the TSC1 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). Disruption of this splice site has been observed in individual(s) affected tuberous sclerosis complex (PMID: 17304050, 23389244). ClinVar contains an entry for this variant (Variation ID: 48982). 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 TSC1 are known to be pathogenic (PMID: 10227394, 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.
Tuberous sclerosis database (TSC1) RCV000042233 SCV000066019 not provided Tuberous sclerosis syndrome no assertion provided curation

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