Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002512638 | SCV003286522 | pathogenic | Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 | 2024-05-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg324*) in the SEC23B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SEC23B are known to be pathogenic (PMID: 19561605, 25044164). This variant is present in population databases (rs121918225, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with congenital dyserythropoietic anemia type 2 (PMID: 19561605). ClinVar contains an entry for this variant (Variation ID: 1226). For these reasons, this variant has been classified as Pathogenic. |
| Revvity Omics, |
RCV003137483 | SCV003825535 | pathogenic | not provided | 2022-11-29 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV003137483 | SCV004564393 | pathogenic | not provided | 2023-03-09 | criteria provided, single submitter | clinical testing | The SEC23B c.970C>T; p.Arg324Ter variant (rs121918225) is reported in the literature as a compound heterozygous variant in an individual affected with congenital dyserythropoietic anemia type II (Schwarz 2009). This variant is also reported in ClinVar (Variation ID: 1226). This variant is found predominantly in the non-Finnish European population with an allele frequency of 0.009% (12/129050 alleles) in the Genome Aggregation Database. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. REFERENCES Schwarz K et al. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nature genetics. 2009 Aug. PMID: 19561605 |
| Fulgent Genetics, |
RCV002512638 | SCV005656381 | likely pathogenic | Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 | 2024-05-14 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000001285 | SCV000021435 | pathogenic | Congenital dyserythropoietic anemia, type II | 2009-08-01 | no assertion criteria provided | literature only | |
| NIHR Bioresource Rare Diseases, |
RCV000001285 | SCV001162260 | likely pathogenic | Congenital dyserythropoietic anemia, type II | no assertion criteria provided | research |