Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001386805 | SCV001587153 | pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 2022-04-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1073730). 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.Leu167Trpfs*27) 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 | RCV001386805 | SCV004201680 | likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 2023-08-22 | criteria provided, single submitter | clinical testing |