Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000797477 | SCV000937036 | pathogenic | Non-ketotic hyperglycinemia | 2019-12-23 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 1-2 of the GLDC gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the GLDC gene. This is expected to result in an absent or disrupted protein product. Similar deletions of exons 1 to 2 have been observed in individuals affected with glycine encephalopathy (non-ketotic hyperglycinemia) (PMID: 17361008). This variant has been observed on the opposite chromosome (in trans) from another pathogenic variant in an individual affected with glycine encephalopathy (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Loss-of-function variants in GLDC are known to be pathogenic (PMID: 16601880). For these reasons, this variant has been classified as Pathogenic. |