Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001049864 | SCV001213938 | pathogenic | Aortic valve disease 2 | 2019-03-07 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TBX5 are known to be pathogenic (PMID: 16183809, 16917909). This variant has been observed in an individual affected with Holt-Oram syndrome (PMID: 10077612). This sequence change creates a premature translational stop signal (p.Glu243Serfs*21) in the TBX5 gene. It is expected to result in an absent or disrupted protein product. |