ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.581dup (p.Tyr194Ter)

dbSNP: rs1555498221
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478011 SCV000566105 pathogenic not provided 2015-03-27 criteria provided, single submitter clinical testing The c.581dupA variant in the TSC2 gene causes a frameshift starting with codon Tyrosine 194 and createsa premature stop codon, denoted p.Y194X. This variant is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. Other single base pair duplications as well asnonsense variants in TSC2 have been reported in the Human Gene Mutation Database in association withtuberous sclerosis (Stenson et al., 2014). Although the c.581dupA variant has not been reported previouslyto our knowledge, we interpret it as pathogenic.

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