Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000988332 | SCV004242289 | likely pathogenic | Severe combined immunodeficiency due to DCLRE1C deficiency | 2024-01-23 | reviewed by expert panel | curation | The NM_001033855.3:c.206T>A (p.Leu69Ter) variant in DCLRE1C is a nonsense variant predicted to cause a premature stop codon in biologically relevant exon, 3/14, which is predicted to lead to nonsense-mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1). This variant is absent from gnomAD v4 (PM2_Supporting). To our knowledge, this variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions or in functional studies. In summary, this variant meets the criteria to be classified as Likely Pathogenic for autosomal recessive severe combined immunodeficiency due to DCLRE1C deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP: PM2_Supporting and PVS1 (VCEP specifications version 1). |
Mendelics | RCV000988332 | SCV001138005 | pathogenic | Severe combined immunodeficiency due to DCLRE1C deficiency | 2019-05-28 | criteria provided, single submitter | clinical testing |