ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1264-1G>A

dbSNP: rs1554816432
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516494 SCV000615871 pathogenic not provided 2017-02-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851470 SCV002308671 likely pathogenic Tuberous sclerosis 1 2021-08-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 448714). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals affected with TSC1-related conditions. This sequence change affects an acceptor splice site in intron 12 of the TSC1 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 TSC1 are known to be pathogenic (PMID: 10227394, 17304050). This variant is not present in population databases (ExAC no frequency).
MutSpliceDB: a database of splice sites variants effects on splicing, NIH RCV000516494 SCV001960882 not provided not provided no assertion provided research

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