ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs)

dbSNP: rs797046064
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000193759 SCV000249258 pathogenic Myopathy 2014-06-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193032 SCV001361569 likely pathogenic Cardiomyopathy 2019-08-26 criteria provided, single submitter clinical testing Variant summary: TTN c.34782_34785delTTGT (p.Cys11595AsnfsX9) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 248262 control chromosomes (gnomAD). To our knowledge, no occurrence of c.34782_34785delTTGT in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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