ClinVar Miner

Submissions for variant NM_001791.4(CDC42):c.62T>C (p.Ile21Thr)

dbSNP: rs1064795845
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481008 SCV000572034 likely pathogenic not provided 2016-10-27 criteria provided, single submitter clinical testing The I21T variant in the CDC42 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The I21T 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 I21T variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The I21T variant is a strong candidate for a pathogenic variant which may be related to the clinical features in this individual. However, the possibility it may be a rare benign variant cannot be excluded.
OMIM RCV000601771 SCV000734810 pathogenic Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 2018-04-06 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291419 SCV001479920 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

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