ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.87077del (p.Pro29026fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003389294 SCV004101311 likely pathogenic Dilated cardiomyopathy 1G 2023-07-21 criteria provided, single submitter clinical testing The TTN c.87077del (p.Pro29026ArgfsTer14) variant causes a shift in the protein reading frame that is predicted to result in premature termination of the protein. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is expected. This variant is located in exon 327 of the meta transcript of titin within the A-band, which is highly expressed in cardiac tissue (PMID: 25589632). In a meta-analysis of TTN truncating variants in dilated cardiomyopathy patients and controls, variants in this region were associated with a significantly increased risk of developing dilated cardiomyopathy (odds ratio 49.8) (PMID: 27869827). This variant is not observed at a significant frequency in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.87077del (p.Pro29026ArgfsTer14) variant is classified as likely pathogenic for dilated cardiomyopathy.

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