ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2355+1G>A

dbSNP: rs45517227
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000800581 SCV000940307 pathogenic Tuberous sclerosis 2 2019-08-25 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 21 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). Disruption of this splice site has been observed in several individuals affected with tuberous sclerosis (PMID: 25782670, 10205261). ClinVar contains an entry for this variant (Variation ID: 49711). 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). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000042975 SCV000066772 not provided Tuberous sclerosis syndrome no assertion provided curation

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