Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004783689 | SCV005394812 | pathogenic | Congenital adrenal hyperplasia | 2024-09-23 | criteria provided, single submitter | clinical testing | Variant summary: The variant involves the deletion of exons 1-7 in the CYP21A2 gene. A presumed nomenclature of c.(?_9)_(939+1_940-1)del has been designated for the purposes of this classification. The exact breakpoint at the 5' end of this variant is unknown, therefore this deletion may extend upstream of the annotated region of this gene. Although the exact breakpoints of this deletion are not known, it is predicted to remove the initiation codon and result in an absence of protein or a truncation of the encoded protein due to translation initiation at a downstream site. The variant was absent in 21694 control chromosomes. c.(?_9)_(939+1_940-1)del has been reported in the literature in multiple individuals affected with Congenital Adrenal Hyperplasia (example, Tolba_2022). These data indicate that the variant is very likely to be associated with disease. The following publication has been ascertained in the context of this evaluation (PMID: 35309130). ClinVar contains an entry for a similar copy number variant (Variation ID: 1297041). Based on the evidence outlined above, the variant was classified as pathogenic. |