ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72848_72849del (p.Lys24283fs) (rs794729339)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184329 SCV000236954 pathogenic not provided 2013-03-13 criteria provided, single submitter clinical testing c.67925_67926delAA: p.Lys22642SerfsX9 (K22642SfsX9) in exon 276 of the TTN gene (NM_001256850.1). The normal sequence with the bases that are deleted in braces is: TATA{AA}GTGT.The c.67925_67926delAA mutation in the TTN gene has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. c.67925_67926delAA causes a shift in reading frame starting at codon Lysine 22642, changing it to a Serine, and creating a premature stop codon at position 9 of the new reading frame, denoted p.Lys22642SerfsX9. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other truncating TTN variants have been reported in approximately 3% of control alleles (Herman D et al., 2012). However, c.67925_67926delAA is located in the A-band region of titin, where the majority of truncating mutations associated with DCM have been reported (Herman D et al., 2012). In summary, c.67925_67926delAA in the TTN gene is interpreted as a disease-causing mutation. The variant is found in DCM panel(s).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV001256712 SCV001433115 pathogenic Dilated cardiomyopathy 1A 2019-12-10 criteria provided, single submitter clinical testing

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