Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001231569 | SCV001404096 | pathogenic | Desbuquois dysplasia 1 | 2019-08-09 | 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 XYLT1 are known to be pathogenic (PMID: 24581741, 26601923). This variant has not been reported in the literature in individuals with XYLT1-related conditions. This sequence change creates a premature translational stop signal (p.Arg441*) in the XYLT1 gene. It is expected to result in an absent or disrupted protein product. |