Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152300 | SCV000201167 | uncertain significance | not specified | 2014-01-28 | criteria provided, single submitter | clinical testing | The Thr15892Ala variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. The affected amino acid is well conserve d in evolution, suggesting that a change would not be tolerated. Other computati onal analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT ) do not provide strong support for or against an impact to the protein. Additio nal information is needed to fully assess the clinical significance of the Thr15 892Ala variant. |
Invitae | RCV000533354 | SCV000643377 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-09-28 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727413 | SCV000708308 | uncertain significance | not provided | 2017-05-03 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000768986 | SCV000900359 | uncertain significance | Cardiomyopathy | 2017-09-21 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000768986 | SCV000995215 | uncertain significance | Cardiomyopathy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000727413 | SCV001813430 | likely benign | not provided | 2021-04-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433661 | SCV002749486 | uncertain significance | Cardiovascular phenotype | 2019-09-27 | criteria provided, single submitter | clinical testing | The p.T9395A variant (also known as c.28183A>G), located in coding exon 113 of the TTN gene, results from an A to G substitution at nucleotide position 28183. The threonine at codon 9395 is replaced by alanine, 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, |
RCV000727413 | SCV003827406 | uncertain significance | not provided | 2022-03-15 | criteria provided, single submitter | clinical testing |