Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674406 | SCV000799735 | likely pathogenic | Primary hyperoxaluria type 3 | 2018-05-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001388628 | SCV001589699 | pathogenic | not provided | 2023-07-25 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with HOGA1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Val42Cysfs*47) in the HOGA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HOGA1 are known to be pathogenic (PMID: 22391140, 22781098). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 558178). |