ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.792_793dup (p.Asp265fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317737 SCV004020589 pathogenic Tuberous sclerosis syndrome 2023-06-26 criteria provided, single submitter clinical testing Variant summary: TSC1 c.792_793dupGG (p.Asp265GlyfsX54) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 251438 control chromosomes. To our knowledge, no occurrence of c.792_793dupGG in individuals affected with TSC1-related conditions and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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