ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1997+2T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018082 SCV004847665 likely pathogenic Tuberous sclerosis syndrome 2019-03-18 criteria provided, single submitter clinical testing The c.1997+2T>C variant in TSC1 has not been previously reported in individuals with tuberous sclerosis complex (TSC) or large population studies. This variant occurs within the canonical splice site (+/- 1,2) and is predicted to cause altered splicing leading to an abnormal or absent protein. Loss of function of the TSC1 gene is an established disease mechanism in autosomal dominant TSC. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant TSC. ACMG/AMP Criteria applied: PVS1, PM2.
Myriad Genetics, Inc. RCV004372001 SCV004930710 likely pathogenic Tuberous sclerosis 1 2023-12-12 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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