Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000703467 | SCV000832367 | likely pathogenic | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2020-01-21 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs777425925, ExAC 0.009%). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant is found in the A-band of this gene. While this particular variant has not been reported in the literature, truncating variants in the A-band of TTN are significantly overrepresented in patients with dilated cardiomyopathy and are considered to be likely pathogenic for the disease (PMID: 25589632). Truncating variants in TTN have also been reported in individuals affected with autosomal recessive centronuclear myopathy (PMID: 23975875) This variant has not been reported in the literature in individuals with TTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 580038). This sequence change results in a premature translational stop signal in the TTN gene (p.Leu21451*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TTN protein. |
Revvity Omics, |
RCV003130016 | SCV003815899 | likely pathogenic | not provided | 2022-08-03 | criteria provided, single submitter | clinical testing |