Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV003224753 | SCV003920611 | pathogenic | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-03-30 | criteria provided, single submitter | clinical testing | TTN NM_133378.4 exon 257 p.Tyr18850* (c.56548_56549insGAGTA): This variant has not been reported in the literature and is not present in large control databases. This variant is present in ClinVar (Variation ID:202456). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an insertion of 5 nucleotides and creates a premature stop at this codon which results in an absent or abnormal protein. Loss of function variants are a known mechanism of disease for this gene. Additionally, this variant is located within the A-band, where the majority of truncating pathogenic variants associated with DCM have been reported (Herman 2012 PMID:22335739). In summary, this variant is classified as pathogenic. |