Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004766512 | SCV005380876 | uncertain significance | not specified | 2024-08-08 | criteria provided, single submitter | clinical testing | Variant summary: The variant involves the deletion of exons 62-63 in the DYNC2H1 gene. A presumed nomenclature of c.(9567+1_9568-1)_(9819+1_9820-1)del has been designated for the purposes of this classification. This Copy Number Variant (CNV) is predicted to result in an in-frame deletion of 84 amino acids within this gene, affecting the Dynein heavy chain, coiled coil stalk (IPR024743) of the protein. However, its impact on protein function is unclear. The variant was absent in 21694 control chromosomes. 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.(9567+1_9568-1)_(9819+1_9820-1)del in individuals affected with Short-rib thoracic dysplasia and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance. |