Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033080 | SCV001196387 | pathogenic | Non-ketotic hyperglycinemia | 2022-08-25 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the GLDC gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in GLDC are known to be pathogenic (PMID: 16601880). A similar copy number variant has been observed in individual(s) with glycine encephalopathy (PMID: 27362913). For these reasons, this variant has been classified as Pathogenic. |