ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.82912_82915del (p.Glu27638fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV004545868 SCV004046441 likely pathogenic TTN-related disorder criteria provided, single submitter clinical testing This frameshifting variant in exon 326 of 363 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has not been previously reported or functionally characterized in the literature to our knowledge. This variant occurs in the A-band of the titin protein, which is enriched for pathogenic truncating variants associated with dilated cardiomyopathy (PMID: 22335739; 31849696; 25589632). Loss-of-function variation in TTN is an established mechanism of disease (PMID: 22335739; 25589632). The c.82912_82915del (p.Glu27638ThrfsTer16) variant is absent from the gnomAD population database and thus is presumed to be rare. Based on the available evidence, the c.82912_82915del (p.Glu27638ThrfsTer16) variant is classified as Likely Pathogenic.

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