Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004766776 | SCV005380403 | uncertain significance | not specified | 2024-08-22 | criteria provided, single submitter | clinical testing | Variant summary: The variant involves the duplication of exons 1-3 in the DCLRE1C gene. A presumed nomenclature of c.(?_-87)_(246+1_247-1)dup has been designated for the purposes of this classification. The exact breakpoint at the 5' end of this variant is unknown, therefore this duplication may extend upstream of the annotated region of this gene. It is predicted to duplicate a segment including the initiation codon, therefore its impact on the encoded protein is unknown. The variant was absent in 21694 control chromosomes. Another duplication also involving exons 1-3 of this gene was reported in gnomAD in 36/21694 control chromosomes including 1 homozygote (DUP_10_29210), however it cannot be determined whether it is identical to the present variant. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.(?_-87)_(246+1_247-1)dup in individuals affected with Severe Combined Immunodeficiency and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for a similar variant (Variation ID: 2423521). Based on the evidence outlined above, the variant was classified as uncertain significance. |