ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12675del (p.Tyr4225_Leu4226insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005234536 SCV005875925 likely pathogenic not provided 2024-09-19 criteria provided, single submitter clinical testing The TTN c.12675del p.Leu4226Ter variant (rs1251061138), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. This variant occurs in an exon that is spliced into 100% of TTN transcripts, and it deletes a single nucleotide, induces an early termination codon, and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be likely pathogenic.

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