ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3610+1G>T

dbSNP: rs45517299
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385218 SCV001584983 pathogenic Tuberous sclerosis 2 2020-07-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants 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). 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. Disruption of this splice site has been observed in individual(s) with tuberous sclerosis (PMID: 26540169, 10942116, 24737435). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 30 of the TSC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Mayo Clinic Laboratories, Mayo Clinic RCV001508403 SCV001714532 likely pathogenic not provided 2023-03-29 criteria provided, single submitter clinical testing PP4, PM2, PS1, PVS1_moderate
Genome-Nilou Lab RCV001385218 SCV002040978 likely pathogenic Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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