Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UNC Molecular Genetics Laboratory, |
RCV001095685 | SCV001251464 | likely pathogenic | Microcephaly 3, primary, autosomal recessive | criteria provided, single submitter | research | The CDK5RAP2 c.4114C>T (p.R1372*) nonsense variant is predicted to result in an absent or aberrant protein. This variant has been reported in the homozygous state in two siblings (brother and sister) with primary microcephaly (PMID: 28004182). |