Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155969 | SCV000205681 | uncertain significance | not specified | 2013-08-02 | criteria provided, single submitter | clinical testing | The Gly25650Ser variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational analysis (biochemical ami no acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significant of the Gly25650Ser variant. |
Gene |
RCV001589020 | SCV001816608 | likely benign | not provided | 2020-12-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345511 | SCV002650695 | uncertain significance | Cardiovascular phenotype | 2019-10-01 | criteria provided, single submitter | clinical testing | The p.G19153S variant (also known as c.57457G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 57457. The glycine at codon 19153 is replaced by serine, an amino acid with 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. |
Revvity Omics, |
RCV001589020 | SCV003825917 | uncertain significance | not provided | 2019-06-27 | criteria provided, single submitter | clinical testing |