Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV004017696 | SCV000713807 | uncertain significance | not provided | 2022-05-04 | criteria provided, single submitter | clinical testing | The c.47566-3T>C variant in TTN has not been previously reported in individuals with cardiomyopathy but has been identified in 0.0008% (1/111878) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant is located in the 3' splice region, but computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the c.47566-3T>C variant is uncertain, these data suggest that it is more likely to be benign. ACMG/AMP Criteria applied: PM2_Supporting, BP4. |
| Ambry Genetics | RCV002438550 | SCV002745802 | uncertain significance | Cardiovascular phenotype | 2019-12-27 | criteria provided, single submitter | clinical testing | The c.28075-3T>C intronic variant results from a T to C substitution 3 nucleotides upstream from coding exon 112 in the TTN gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV002506455 | SCV002816125 | 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 | 2021-10-16 | criteria provided, single submitter | clinical testing |