ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2546-2A>G

dbSNP: rs45517246
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176373 SCV000228019 pathogenic not provided 2014-10-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001380264 SCV001578262 pathogenic Tuberous sclerosis 2 2020-12-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change affects an acceptor splice site in intron 22 of the TSC2 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). Dirurption of this splice site has been observed in individual(s) with clinical features of tuberous sclerosis complex (PMID: 16981987, 29432982). ClinVar contains an entry for this variant (Variation ID: 49780). 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 TSC2 are known to be pathogenic (PMID: 10205261, 17304050).
Genome-Nilou Lab RCV001380264 SCV002040956 pathogenic Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043045 SCV000066844 not provided Tuberous sclerosis syndrome no assertion provided curation

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