ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22745_22746del (p.Ser7582fs) (rs779549899)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000623079 SCV000622033 uncertain significance not provided 2017-11-02 criteria provided, single submitter clinical testing The c.19013_19014delCT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The c.19013_19014delCT variant causes a frameshift starting with codon Serine 6338, changes this amino acid to a Tryptophan residue and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Ser6338TrpfsX10. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, the c.19013_19014delCT variant is not located in the A-band nor the M-line region of titin, where the majority of pathogenic truncating variants have been reported.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000623079 SCV000740487 likely pathogenic not provided 2017-03-31 criteria provided, single submitter clinical testing

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