ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.599+2T>G

dbSNP: rs45484992
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037420 SCV001200831 pathogenic Tuberous sclerosis 2 2023-07-14 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with tuberous sclerosis complex (PMID: 21811971). ClinVar contains an entry for this variant (Variation ID: 49876). 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. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 6 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).
Tuberous sclerosis database (TSC2) RCV000043142 SCV000066941 not provided Tuberous sclerosis syndrome no assertion provided curation

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