ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.916C>T (p.Arg306Ter)

dbSNP: rs1557909777
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760863 SCV000890759 likely pathogenic not provided 2018-12-04 criteria provided, single submitter clinical testing The R306X variant in the POGZ 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 R306X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R306X as a likely pathogenic variant.
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001528136 SCV001739344 pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2021-05-06 no assertion criteria provided clinical testing

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