Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154924 | SCV000204606 | uncertain significance | not specified | 2013-06-12 | criteria provided, single submitter | clinical testing | The Glu20717Lys variant in TTN has not been reported in individuals with cardiom yopathy, but has been identified in 2/3830 African American chromosomes by the N HLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, and PolyP hen2) suggest that this variant may not impact the protein, though this informat ion is not predictive enough to rule out pathogenicity. Additional information i s needed to fully assess the clinical significance of the Glu20717Lys variant. |
Invitae | RCV000226257 | SCV000286807 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001561005 | SCV001783523 | likely benign | not provided | 2020-10-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002326884 | SCV002631537 | likely benign | Cardiovascular phenotype | 2020-08-19 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |