Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040732 | SCV000064423 | uncertain significance | not specified | 2012-02-07 | criteria provided, single submitter | clinical testing | The Ser26555Arg variant (TTN) has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD, and SIFT) do not provide strong support f or or against an impact to the protein. Additional information is needed to full y assess the clinical significance of the Ser26555Arg variant. |
Gene |
RCV000725253 | SCV000237678 | likely benign | not provided | 2019-05-30 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30453078) |
Eurofins Ntd Llc |
RCV000725253 | SCV000335336 | uncertain significance | not provided | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000643680 | SCV000765367 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-08 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000725253 | SCV001714624 | uncertain significance | not provided | 2020-01-22 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798188 | SCV002043030 | uncertain significance | Cardiomyopathy | 2021-04-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354213 | SCV002656615 | uncertain significance | Cardiovascular phenotype | 2019-09-24 | criteria provided, single submitter | clinical testing | The p.S20058R variant (also known as c.60172A>C), located in coding exon 155 of the TTN gene, results from an A to C substitution at nucleotide position 60172. The serine at codon 20058 is replaced by arginine, an amino acid with dissimilar properties. 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, |
RCV000725253 | SCV003821787 | uncertain significance | not provided | 2023-12-11 | criteria provided, single submitter | clinical testing |