Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000620604 | SCV000735954 | uncertain significance | Cardiovascular phenotype | 2017-07-19 | criteria provided, single submitter | clinical testing | The p.I5997T variant (also known as c.17990T>C), located in coding exon 72 of the TTN gene, results from a T to C substitution at nucleotide position 17990. The isoleucine at codon 5997 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species, and threonine is the reference amino acid in other 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. |
Revvity Omics, |
RCV003139938 | SCV003822354 | uncertain significance | not provided | 2020-07-24 | criteria provided, single submitter | clinical testing |