Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003405083 | SCV004121762 | pathogenic | 3-M syndrome | 2023-10-17 | criteria provided, single submitter | clinical testing | Variant summary: CUL7 c.3991_3992delCT (p.Leu1331GlufsX47) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 251378 control chromosomes (gnomAD). To our knowledge, no occurrence of c.3991_3992delCT in individuals affected with Three M Syndrome 1 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 after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Labcorp Genetics |
RCV003669419 | SCV004396766 | pathogenic | not provided | 2023-07-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CUL7-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu1331Glufs*47) in the CUL7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CUL7 are known to be pathogenic (PMID: 16142236, 17675530, 19225462). |