ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41391_41393del (p.Leu13798del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003389388 SCV004101555 uncertain significance Early-onset myopathy with fatal cardiomyopathy criteria provided, single submitter clinical testing The c.41391_41393del (p.Leu13798del) inframe deletion variant in TTN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Leu13798del variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This p.Leu13798del causes deletion of amino acid Leucine at position 13798. The observed variant is not in the repeat region. Since this inframe deletion is not expected to cause protein truncation, the above variant has been classified as Variant of Uncertain Significance (VUS).

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