Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215701 | SCV000272806 | uncertain significance | not specified | 2015-10-30 | criteria provided, single submitter | clinical testing | The p.Glu29701Asp variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis suggest that the p.Glu29701Asp variant may impact the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of the p.Glu29701Asp variant is uncertain. |
Ambry Genetics | RCV002365161 | SCV002664386 | uncertain significance | Cardiovascular phenotype | 2019-05-30 | criteria provided, single submitter | clinical testing | The p.E23204D variant (also known as c.69612A>T), located in coding exon 174 of the TTN gene, results from an A to T substitution at nucleotide position 69612. The glutamic acid at codon 23204 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly 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. |