Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218291 | SCV000272678 | uncertain significance | not specified | 2018-01-17 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Invitae | RCV000542859 | SCV000643318 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000834516 | SCV000976285 | likely benign | not provided | 2018-04-13 | 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. |
ARUP Laboratories, |
RCV000834516 | SCV001472258 | uncertain significance | not provided | 2019-10-07 | criteria provided, single submitter | clinical testing | The TTN c.52199A>C; p.Glu17400Ala variant (rs773027240; ClinVar Variation ID: 229454) is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p.Glu17400Ala variant cannot be determined with certainty. |
Ambry Genetics | RCV002429074 | SCV002741905 | uncertain significance | Cardiovascular phenotype | 2018-11-30 | criteria provided, single submitter | clinical testing | The p.E8335A variant (also known as c.25004A>C), located in coding exon 101 of the TTN gene, results from an A to C substitution at nucleotide position 25004. The glutamic acid at codon 8335 is replaced by alanine, an amino acid with dissimilar 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. |