Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001197741 | SCV001368520 | uncertain significance | Tibial muscular dystrophy | 2020-01-29 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3,BP1. |
Ambry Genetics | RCV002365896 | SCV002663024 | uncertain significance | Cardiovascular phenotype | 2018-07-27 | criteria provided, single submitter | clinical testing | The p.G23569S variant (also known as c.70705G>A), located in coding exon 178 of the TTN gene, results from a G to A substitution at nucleotide position 70705. The glycine at codon 23569 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. |