Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674286 | SCV000799596 | likely pathogenic | Non-ketotic hyperglycinemia | 2018-04-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000674286 | SCV000959211 | pathogenic | Non-ketotic hyperglycinemia | 2018-12-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala624Metfs*11) in the GLDC gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs772068893, ExAC 0.001%). This variant has been reported in an individual affected with nonketotic hyperglycinemia (PMID: 26179960).  ClinVar contains an entry for this variant (Variation ID: 558067). This variant has been reported as p.Y623insATfs in the literature. Loss-of-function variants in GLDC are known to be pathogenic (PMID: 16601880). For these reasons, this variant has been classified as Pathogenic. |