Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000337217 | SCV000345318 | likely pathogenic | not provided | 2016-09-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000337217 | SCV001371165 | pathogenic | not provided | 2020-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001377610 | SCV001574990 | likely pathogenic | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg34805*) in the TTN gene. While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TTN protein. This variant is present in population databases (rs750519430, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with centronuclear myopathy, dilated cardiomyopathy and clinical features of TTN-related conditions (PMID: 31737537, 33820833, 34958143, 36264615). ClinVar contains an entry for this variant (Variation ID: 290707). This variant is located in the M band of TTN (PMID: 25589632). Truncating variants in this region have been previously reported in individuals affected with autosomal recessive myopathy and muscular dystrophy (PMID: 18948003, 23975875, 24395473). Truncating variants in this region have also been identified in individuals affected with autosomal dominant dilated cardiomyopathy and/or cardio-related conditions (PMID: 27869827, 32964742). 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. |
Revvity Omics, |
RCV000337217 | SCV002021499 | likely pathogenic | not provided | 2020-04-02 | criteria provided, single submitter | clinical testing |