Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172222 | SCV000054913 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000154908 | SCV000204590 | uncertain significance | not specified | 2015-03-20 | criteria provided, single submitter | clinical testing | The p.Arg25754His variant in TTN gene has not been previously reported in indivi duals with cardiomyopathy, but has been identified at very low frequency in seve ral populations by the NHLBI Exome Sequencing Project (1/3812 African American; 1/8520 East Asian and 7/66670 chromosomes; http://evs.gs.washington.edu/EVS/; db SNPrs373532064). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg25754His variant is uncertain. |
Eurofins Ntd Llc |
RCV000172222 | SCV000228567 | uncertain significance | not provided | 2015-03-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000542158 | SCV000643790 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-13 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170552 | SCV001333138 | uncertain significance | Cardiomyopathy | 2018-01-25 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000172222 | SCV001714633 | uncertain significance | not provided | 2019-05-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000172222 | SCV001814782 | likely benign | not provided | 2019-08-06 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23861362) |
Ambry Genetics | RCV002354370 | SCV002652111 | uncertain significance | Cardiovascular phenotype | 2018-05-30 | criteria provided, single submitter | clinical testing | The p.R19257H variant (also known as c.57770G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 57770. The arginine at codon 19257 is replaced by histidine, an amino acid with highly similar properties. This alteration (reported as p.R25754H) has been detected as a secondary cardiac variant in an exome cohort (Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46). This amino acid position is 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. |
Revvity Omics, |
RCV000172222 | SCV003819213 | uncertain significance | not provided | 2019-11-13 | criteria provided, single submitter | clinical testing |