ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.599+1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004821450 SCV005442693 likely pathogenic Tuberous sclerosis 2 criteria provided, single submitter clinical testing The invariant splice donor c.599+1G>C in gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.599+1G>C variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. SpliceAI predicts this variant to cause splice donor loss score-0.82. Loss of function variants have been previously reported to be disease causing. Functional studies are required to prove the pathogenicity for the variant, for these reasons, this variant has been classified as Likely Pathogenic

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