Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220297 | SCV000272819 | uncertain significance | not specified | 2017-04-20 | criteria provided, single submitter | clinical testing | The p.Arg30898His variant in TTN has been previously identified by our laborator y in 1 individual with neonatal DCM, as well as in 9/34348 Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbS NP rs189626540). This variant has been reported in ClinVar (Variation ID: 229558 ) as of uncertain significance. Computational prediction tools and conservation analysis suggest that the variant may impact the protein, though this informatio n is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg30898His variant is uncertain. |
Invitae | RCV000470440 | SCV000542779 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-06-12 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000731446 | SCV000859264 | uncertain significance | not provided | 2018-01-24 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000731446 | SCV001146295 | uncertain significance | not provided | 2019-07-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000731446 | SCV001768484 | likely benign | not provided | 2021-03-22 | criteria provided, single submitter | clinical testing | Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002381748 | SCV002674398 | uncertain significance | Cardiovascular phenotype | 2020-01-02 | criteria provided, single submitter | clinical testing | The p.R24401H variant (also known as c.73202G>A), located in coding exon 184 of the TTN gene, results from a G to A substitution at nucleotide position 73202. The arginine at codon 24401 is replaced by histidine, 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. |
Revvity Omics, |
RCV000731446 | SCV003825627 | uncertain significance | not provided | 2023-10-29 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV003448290 | SCV004176086 | uncertain significance | Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 | 2023-06-09 | criteria provided, single submitter | clinical testing |