Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152176 | SCV000200908 | uncertain significance | not specified | 2014-08-11 | criteria provided, single submitter | clinical testing | The Val29422Met variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis suggest that this variant may not impact the protein , though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the Val29422Met variant is uncertain. |
Invitae | RCV000549754 | SCV000643951 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-06-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619899 | SCV000735587 | uncertain significance | Cardiovascular phenotype | 2019-08-30 | criteria provided, single submitter | clinical testing | The p.V22925M variant (also known as c.68773G>A), located in coding exon 172 of the TTN gene, results from a G to A substitution at nucleotide position 68773. The valine at codon 22925 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
CHEO Genetics Diagnostic Laboratory, |
RCV000769874 | SCV000901300 | uncertain significance | Cardiomyopathy | 2016-06-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002478434 | SCV002775579 | 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 | 2021-09-13 | criteria provided, single submitter | clinical testing |