Submissions for variant NM_001791.4(CDC42):c.242G>T (p.Cys81Phe)

dbSNP: rs1553196100

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	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, University of Washington	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