ClinVar Miner

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

dbSNP: rs45517404
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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 RCV003511993 SCV004296345 pathogenic Tuberous sclerosis 2 2022-12-30 criteria provided, single submitter clinical testing 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). 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: 10570911, 11112665). This variant is also known as Intron 39, 5179 -1 GtoT. ClinVar contains an entry for this variant (Variation ID: 49848). 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) RCV000043114 SCV000066913 not provided Tuberous sclerosis syndrome no assertion provided curation

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