ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4613dup (p.Ser1539fs)

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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 RCV004018357 SCV004848102 pathogenic Tuberous sclerosis syndrome 2019-02-01 criteria provided, single submitter clinical testing The p.Ser1539fs variant in TSC2 has not been previously reported in individuals with tuberous sclerosis or in large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 1539 and leads to a premature termination codon 27 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of the TSC2 gene is an established disease mechanism in individuals with tuberus sclerosis. In summary, this variant meets criteria to be classified as pathogenic for tuberous sclerosis in an autosomal dominant manner based upon the predicted impact to the protein and absence in controls.

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