ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5161-1G>C

dbSNP: rs45517404
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV001281110 SCV001425280 pathogenic Tuberous sclerosis 2 2020-02-01 criteria provided, single submitter research
Invitae RCV001281110 SCV001582301 pathogenic Tuberous sclerosis 2 2022-12-20 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: 49944). Disruption of this splice site has been observed in individuals with tuberous sclerosis complex (PMID: 11112665, 29801666). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 40 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).
Genome-Nilou Lab RCV001281110 SCV002041022 pathogenic Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043211 SCV000067012 not provided Tuberous sclerosis syndrome no assertion provided curation

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