Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Division, |
RCV000778069 | SCV000902504 | pathogenic | Ebstein anomaly; Heart, malformation of; Abnormal facial shape; Congenital diaphragmatic hernia; Ventriculomegaly; Stillbirth; Common atrium | 2019-05-16 | criteria provided, single submitter | research | c.185C>T (p.Ser62Leu) missense variant in CDK8 has been reported among five individuals with developmental disorder. De novo missense variants in CDK8 gene have been recently implicated in syndromic developmental disorder (PMID:30905399). The reported variant is a heterozygous stop gain variant (c.185C>A:p.Ser62*) at the same position. |