Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031149 | SCV001194455 | pathogenic | Non-ketotic hyperglycinemia | 2019-07-22 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 3 of the GLDC gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been observed to be homozygous in an individual affected with glycine encephalopathy (PMID: 27362913). Loss-of-function variants in GLDC are known to be pathogenic (PMID: 16601880). For these reasons, this variant has been classified as Pathogenic. |