Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Division Of Personalized Genomic Medicine, |
RCV003330302 | SCV004037346 | likely pathogenic | Dilated cardiomyopathy 1G; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9 | 2019-10-16 | criteria provided, single submitter | clinical testing | The variant, c.92671G>T (p.Glu30891Ter) in the TTN gene, substitutes a conserved glutamic acid residue to a premature termination codon (PTC) at amino acid position 30891 in the A-band of the protein and is predicted to undergo nonsense-medicated decay (NMD). This variant localizes to coding exon 339 of the TTN gene (363 coding exons in total; NM_001267550.2). This variant has not been observed in the Genome Aggregation Database (gnomAD), indicating it is not a common benign variant in the populations represented in this database. To the best of our knowledge, this specific variant has not been described to be associated with disease. However, truncating variants in the A-band of the TTN protein are a known mechanism of disease (PMID: 25589632). |