ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2625+367A>G (rs1564474542)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705549 SCV000834550 likely pathogenic Tuberous sclerosis 1 2019-06-04 criteria provided, single submitter clinical testing This sequence change falls in intron 20 of the TSC1 gene. It does not directly change the encoded amino acid sequence of the TSC1 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed to segregate with tuberous sclerosis complex in two families (PMID: 25927202, Invitae). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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