Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000154989 | SCV000204671 | uncertain significance | not specified | 2013-04-21 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Lys5016Gln vari ant in TTN has not been reported in individuals with cardiomyopathy, but has bee n identified in 2/8278 European American chromosomes by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/). Lysine (Lys) at position 5016 is not conserved in mammals, suggesting that a change at this position would be to lerated. Additional computational analyses (biochemical amino acid properties, A lignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an i mpact to the protein. Although the lack of segregation supports that the Lys5016 Gln variant may be benign, additional studies are needed to fully assess its cli nical significance. |
| Gene |
RCV000836064 | SCV000977891 | likely benign | not provided | 2018-03-21 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Revvity Omics, |
RCV000836064 | SCV003820121 | uncertain significance | not provided | 2020-06-30 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000154989 | SCV004241294 | uncertain significance | not specified | 2023-12-03 | criteria provided, single submitter | clinical testing |