Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172478 | SCV000051344 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000155013 | SCV000204695 | uncertain significance | not specified | 2013-04-02 | criteria provided, single submitter | clinical testing | The Ala1385Thr variant in TTN has been identified by our laboratory in 1 infant with DCM (LMM unpublished data). This variant has been identified in 1/4406 Afri can American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS/) and in 1/1324 European chromosomes by the ClinSeq Project (db SNP rs140760859). Computational analyses (biochemical amino acid properties, con servation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully asse ss the clinical significance of this variant. |
Labcorp Genetics |
RCV000464939 | SCV000542704 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-06-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000172478 | SCV000725614 | likely benign | not provided | 2019-06-18 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23861362) |
CHEO Genetics Diagnostic Laboratory, |
RCV000769134 | SCV000900508 | uncertain significance | Cardiomyopathy | 2020-08-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354371 | SCV002622213 | uncertain significance | Cardiovascular phenotype | 2020-08-18 | criteria provided, single submitter | clinical testing | The p.A1339T variant (also known as c.4015G>A), located in coding exon 22 of the TTN gene, results from a G to A substitution at nucleotide position 4015. The alanine at codon 1339 is replaced by threonine, an amino acid with similar properties. This amino acid position is not 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, |
RCV000172478 | SCV003820298 | uncertain significance | not provided | 2019-12-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000172478 | SCV004183842 | uncertain significance | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | TTN: PM2 |