Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000497401 | SCV000589746 | likely pathogenic | not provided | 2016-02-19 | criteria provided, single submitter | clinical testing | The C81F variant in the CDC42 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The C81F variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret C81F as a likely pathogenic variant.However, the possibility it may be a rare benign variant cannot be excluded |
OMIM | RCV000604971 | SCV000734808 | pathogenic | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | 2023-03-21 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV001291424 | SCV001479925 | likely pathogenic | Abnormal facial shape; Abnormality of blood and blood-forming tissues; Abnormality of the immune system; Postnatal growth retardation; Neurodevelopmental abnormality | no assertion criteria provided | research |