Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000623540 | SCV000740490 | uncertain significance | not specified | 2017-06-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343174 | SCV002646278 | uncertain significance | Cardiovascular phenotype | 2020-03-23 | criteria provided, single submitter | clinical testing | The c.53497_53502delAAAATA variant (also known as p.K17833_I17834del) is located in coding exon 153 of the TTN gene. This variant results from an in-frame deletion of six nucleotides at positions 53497 to 53502. This results in the deletion of two amino acids between codons 17833 and 17834. These amino acid position are well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |