Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817923 | SCV000958510 | pathogenic | Severe combined immunodeficiency due to DCLRE1C deficiency | 2022-10-13 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 3-4 of the DCLRE1C 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 DCLRE1C are known to be pathogenic (PMID: 21664875, 26123418). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. For these reasons, this variant has been classified as Pathogenic. |