Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001053812 | SCV001218093 | pathogenic | Non-ketotic hyperglycinemia | 2022-11-28 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with GLDC-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 849779). This variant is present in population databases (rs770743220, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Leu844*) in the GLDC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GLDC are known to be pathogenic (PMID: 16601880). |