Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155653 | SCV000205362 | uncertain significance | not specified | 2013-04-21 | criteria provided, single submitter | clinical testing | The Val17267Gly variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information i s needed to fully assess the clinical significance of this variant. |
Ambry Genetics | RCV002321645 | SCV002610299 | uncertain significance | Cardiovascular phenotype | 2019-06-19 | criteria provided, single submitter | clinical testing | The p.V10770G variant (also known as c.32309T>G), located in coding exon 128 of the TTN gene, results from a T to G substitution at nucleotide position 32309. The valine at codon 10770 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is not well 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. |