Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597154 | SCV000706193 | uncertain significance | not provided | 2017-02-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001303055 | SCV001492288 | likely pathogenic | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 134 of the TTN gene. It is expected to disrupt RNA splicing and likely results in a truncated or disrupted TTN protein. This variant is present in population databases (rs546105899, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 500306). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is located in the I band of TTN (PMID: 25589632). Truncating variants in this region have been reported in individuals affected with autosomal recessive centronuclear myopathy (PMID: 23975875). 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. |
Gene |
RCV000597154 | SCV001824642 | uncertain significance | not provided | 2023-07-10 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign in association with cardiomyopathy to our knowledge; Canonical splice site variant in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; This variant is associated with the following publications: (PMID: 35177841) |
Fulgent Genetics, |
RCV002506422 | SCV002816253 | uncertain significance | 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 | 2021-09-02 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000597154 | SCV003819764 | uncertain significance | not provided | 2022-09-15 | criteria provided, single submitter | clinical testing |