Total submissions: 9
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000040183 | SCV000063874 | uncertain significance | not specified | 2012-11-07 | criteria provided, single submitter | clinical testing | The Val1045Met variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant has been identified in 2/4406 Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs72647868). Computational an alyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, a nd SIFT) suggest that the Val1045Met variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, additional studies are needed to fully assess its clinical significance. |
| Eurofins Ntd Llc |
RCV000714011 | SCV000342089 | uncertain significance | not provided | 2017-11-17 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000456345 | SCV000542883 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-08-04 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000714011 | SCV000714955 | likely benign | not provided | 2020-09-17 | criteria provided, single submitter | clinical testing | |
| Athena Diagnostics Inc | RCV000714011 | SCV000844674 | uncertain significance | not provided | 2018-05-17 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV000714011 | SCV000884785 | uncertain significance | not provided | 2018-02-27 | criteria provided, single submitter | clinical testing | The TTN c.3133G>A; p.Val1045Met variant is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. While the clinical significance of such variants is considered uncertain, evidence suggests that vast majority of missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Given the available evidence, the clinical significance of the p.Val1045Met variant cannot be determined with certainty. |
| Mayo Clinic Laboratories, |
RCV000714011 | SCV002541993 | uncertain significance | not provided | 2021-07-06 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002433513 | SCV002750722 | likely benign | Cardiovascular phenotype | 2020-03-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Revvity Omics, |
RCV000714011 | SCV003823591 | uncertain significance | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing |