ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.211-1G>A (rs118203353)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686570 SCV000814093 pathogenic Tuberous sclerosis 1 2018-03-09 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 4 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). This variant has been reported in several individuals affected with tuberous sclerosis and has been reported to arise de novo in at least one affected individual (PMID: 10227394, 11112665). This variant has also been reported as c.432-1G>A. ClinVar contains an entry for this variant (Variation ID: 48902). 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). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC1) RCV000042153 SCV000065938 not provided Tuberous sclerosis syndrome no assertion provided curation

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