ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4850-2A>G

dbSNP: rs397515315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University RCV001250762 SCV001425607 pathogenic Tuberous sclerosis 2 2020-07-10 criteria provided, single submitter clinical testing
Invitae RCV001250762 SCV004632422 pathogenic Tuberous sclerosis 2 2023-09-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 65369). Disruption of this splice site has been observed in individual(s) with tuberculosis sclerosis complex (PMID: 32211034). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 37 of the TSC2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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).
Tuberous sclerosis database (TSC2) RCV000055594 SCV000083819 not provided Tuberous sclerosis syndrome no assertion provided curation

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