ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+4203del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genotypic Technology Pvt Ltd RCV003455786 SCV003934997 likely pathogenic Primary dilated cardiomyopathy 2022-11-21 flagged submission clinical testing A single base deletion variant at position 179613647 on chromosome 2 has not been reported earlier either as benign or pathogenic variant to our knowledge. This variant is present in the exon 46 of Novex3 isoform of TTN which is a cardiac specific isoform. This deletion leads to reading frameshift resulting in premature termination of the chain. With the strong scoring by varsome this variant is classified as likely pathogenic

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