Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000473090 | SCV000542665 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-09-20 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000768880 | SCV000900253 | uncertain significance | Cardiomyopathy | 2016-04-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356643 | SCV002653614 | uncertain significance | Cardiovascular phenotype | 2019-11-01 | criteria provided, single submitter | clinical testing | The p.G19642E variant (also known as c.58925G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 58925. The glycine at codon 19642 is replaced by glutamic acid, 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. |
Athena Diagnostics | RCV002473009 | SCV002770573 | uncertain significance | not provided | 2021-08-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004529582 | SCV004109490 | uncertain significance | TTN-related disorder | 2023-06-22 | criteria provided, single submitter | clinical testing | The TTN c.86120G>A variant is predicted to result in the amino acid substitution p.Gly28707Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179424739-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |