Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152484 | SCV000201616 | likely benign | not specified | 2020-09-22 | criteria provided, single submitter | clinical testing | The p.Arg3145Lys variant in TTN is classified as likely benign because it has been identified in 0.026% (8/30614) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. ACMG/AMP Criteria applied: BS1. |
Gene |
RCV000152484 | SCV000727547 | likely benign | not specified | 2018-02-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV002372003 | SCV002684404 | uncertain significance | Cardiovascular phenotype | 2020-01-10 | criteria provided, single submitter | clinical testing | The p.R3099K variant (also known as c.9296G>A), located in coding exon 38 of the TTN gene, results from a G to A substitution at nucleotide position 9296. The arginine at codon 3099 is replaced by lysine, an amino acid with highly 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. |