ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68169_68171dup (p.Tyr22724Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002511568 SCV002820896 likely pathogenic Dilated cardiomyopathy 1G 2023-01-18 criteria provided, single submitter clinical testing The variant c.60465_60467dup (p.(Tyr20156*)) in exon 269 of the TTN gene is not found in the gnomAD database and changes the protein sequence starting at position 20156 and interrupts the reading frame prematurely. This variant was found in one of our patients and her mother, both affected by dilated cardiomyopathy. ACMG criteria used for classification: PVS1, PM2, PP1_supp.

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