ClinVar Miner

Submissions for variant NM_001260.3(CDK8):c.185C>A (p.Ser62Ter) (rs1565977796)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000778069 SCV000902504 pathogenic Ebstein anomaly of the tricuspid valve; Abnormal heart morphology; 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.

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