ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73568del (p.Pro24523fs) (rs1559415567)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688335 SCV000815941 likely pathogenic Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-24 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TTN gene (p.Pro24523Hisfs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 11,469 amino acids of the TTN protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TTN-related disease. This variant is found in the A-band of this gene. While this particular variant has not been reported in the literature, truncating variants in the A-band of TTN are significantly overrepresented in patients with dilated cardiomyopathy and are considered to be likely pathogenic for the disease (PMID: 25589632). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852505 SCV000995201 pathogenic Primary dilated cardiomyopathy 2019-05-14 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV000852505 SCV001434755 uncertain significance Primary dilated cardiomyopathy no assertion criteria provided research

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