Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156307 | SCV000206025 | uncertain significance | not specified | 2016-07-13 | criteria provided, single submitter | clinical testing | The p.Glu32404Lys variant in TTN has been identified by our laboratory in 1 Cauc asian individual with ARVC and bilateral enlargement/dilation and in 1 Caucasian infant with HCM who carried an additional likely pathogenic variant in another gene. It has also been identified in 1/66738 European chromosomes by the Exome A ggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs727504918). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical signif icance of the p.Glu32404Lys variant is uncertain. |
Invitae | RCV000529644 | SCV000642566 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-07-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002408696 | SCV002668964 | uncertain significance | Cardiovascular phenotype | 2020-07-15 | criteria provided, single submitter | clinical testing | The p.E25907K variant (also known as c.77719G>A), located in coding exon 185 of the TTN gene, results from a G to A substitution at nucleotide position 77719. The glutamic acid at codon 25907 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and lysine is the reference amino acid in other 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, |
RCV003137678 | SCV003820179 | uncertain significance | not provided | 2021-11-04 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486707 | SCV004240236 | likely benign | Cardiomyopathy | 2022-11-10 | criteria provided, single submitter | clinical testing |