ClinVar Miner

Submissions for variant NM_003688.3(CASK):c.1609C>T (p.Arg537Ter) (rs1555981717)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599298 SCV000709791 pathogenic not provided 2018-02-09 criteria provided, single submitter clinical testing The R537X variant in the CASK gene has been reported previously in females with MICPCH (Seto et al., 2017; DeLuca et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R537X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R537X as a pathogenic variant.
Mendelics RCV000990797 SCV001141836 likely pathogenic Mental retardation and microcephaly with pontine and cerebellar hypoplasia 2019-05-28 criteria provided, single submitter clinical testing

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