ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2626-2A>T

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Total submissions: 1
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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 RCV004018339 SCV004847989 pathogenic Tuberous sclerosis syndrome 2016-06-22 criteria provided, single submitter clinical testing The c.2626-2A>T variant in TSC1 has not been reported in individuals with tuberous sclerosis, and was absent from large population studies. This variant occurs in the invariant region (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Heterozygous loss-of-function of the TSC1 gene is an established disease mechanism in individuals with tuberous sclerosis. In summary, this variant meets our criteria to be classified as pathogenic for tuberous sclerosis in an autosomal dominant manner based upon the predicted impact to the protein.

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