Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000250601 | SCV000319861 | uncertain significance | Cardiovascular phenotype | 2022-02-15 | criteria provided, single submitter | clinical testing | The c.61903_61905delGAA variant (also known as p.E20635del) is located in coding exon 160 of the TTN gene. This variant results from an in-frame GAA deletion at nucleotide positions 61903 to 61905. This results in the in-frame deletion of a glutamic acid at codon 20635. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003137864 | SCV003819609 | uncertain significance | not provided | 2019-09-13 | criteria provided, single submitter | clinical testing |