ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11657del (p.Asp3886fs) (rs397517826)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041079 SCV000064770 uncertain significance not specified 2012-05-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Asp3648fs v ariant in TTN has not been reported in the literature nor previously identified by our laboratory. This frameshift variant is predicted to alter the protein?s a mino acid sequence beginning at position 3648 and lead to a premature terminatio n codon 22 amino acids downstream. Heterozygous loss of function of the TTN gene is strongly associated with DCM (Herman 2012). The available evidence suggests that the Asp3648fs variant may be pathogenic but additional studies are needed t o fully assess its clinical significance.
Blueprint Genetics RCV000208072 SCV000264295 uncertain significance Left ventricular noncompaction cardiomyopathy 2015-04-15 criteria provided, single submitter clinical testing

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