ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2221-2A>G

dbSNP: rs45502196
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694650 SCV000823107 pathogenic Tuberous sclerosis 2 2023-12-06 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 20 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with tuberous sclerosis complex (PMID: 21520333, 29196670). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 49815). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000043081 SCV000066880 not provided Tuberous sclerosis syndrome no assertion provided curation

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