Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002761028 | SCV003018254 | pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 2022-12-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SLC25A15-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn109Metfs*22) in the SLC25A15 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC25A15 are known to be pathogenic (PMID: 11552031, 19242930). |
Baylor Genetics | RCV002761028 | SCV004201695 | likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 2022-07-26 | criteria provided, single submitter | clinical testing |