Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156033 | SCV000205746 | uncertain significance | not specified | 2015-01-29 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Arg5938Trp va riant in TTN has not been previously reported in any other families with cardiom yopathy. This variant has been identified in 8/11348 Latino chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Arginine (Ar g) at position 5938 is not conserved in mammals or in evolutionarily distant spe cies and one primate (gorilla) has a tryptophan (Trp) at this position, raising the possibility that this change is tolerated. In summary, while the clinical si gnificance of the p.Arg5938Trp variant is uncertain, the presence of the variant amino acid in another primate as well as its the presence in the general popula tion suggests that it is more likely to be benign. |
Gene |
RCV001568596 | SCV001792500 | likely benign | not provided | 2021-04-29 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001568596 | SCV003821107 | uncertain significance | not provided | 2019-05-02 | criteria provided, single submitter | clinical testing |