ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3397+1G>A

dbSNP: rs137854208
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001225613 SCV001397897 pathogenic Tuberous sclerosis 2 2020-12-01 criteria provided, single submitter clinical testing 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). This sequence change affects a donor splice site in intron 29 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 individuals affected with clinical features of tuberous sclerosis complex (PMID: 27406250, 10533067, Invitae). ClinVar contains an entry for this variant (Variation ID: 49256). 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. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002490589 SCV002791566 pathogenic Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-12-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001225613 SCV003823713 pathogenic Tuberous sclerosis 2 2022-04-29 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042515 SCV000066306 not provided Tuberous sclerosis syndrome no assertion provided curation

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