ClinVar Miner

Submissions for variant NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) (rs767241917)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599067 SCV000710042 pathogenic not provided 2018-01-24 criteria provided, single submitter clinical testing The R213X variant in the SOX5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R213X variant is notobserved in large population cohorts (Lek et al., 2016). Additionally, the R213X variant has been reported as de novo with confirmed parentage in a patient with developmental delay, hypotonia, and dysmorphic features previously tested at GeneDx. The presence of this pathogenic variant isconsistent with the diagnosis of SOX5-related disorder in this individual.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000656421 SCV000778431 likely pathogenic Lamb-shaffer syndrome 2017-06-29 criteria provided, single submitter clinical testing
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University RCV000656421 SCV001622436 pathogenic Lamb-shaffer syndrome 2021-05-13 criteria provided, single submitter clinical testing
Institute for Human Genetics, University Hospital Essen RCV000656421 SCV000999884 pathogenic Lamb-shaffer syndrome 2019-08-05 no assertion criteria provided clinical testing

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