Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001062251 | SCV001227036 | likely pathogenic | Aortic valve disease 2 | 2019-11-19 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has been reported to affect TBX5 protein function (PMID: 20519243). This variant has been observed in individual(s) with Holt-Oram syndrome (PMID:20519243). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This variant, c.658_660del, results in the deletion of 1 amino acid(s) of the TBX5 protein (p.His220del), but otherwise preserves the integrity of the reading frame. |