ClinVar Miner

Submissions for variant NM_003688.3(CASK):c.1480C>T (p.Gln494Ter) (rs1064796879)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485707 SCV000574039 pathogenic not provided 2017-03-16 criteria provided, single submitter clinical testing The Q494X variant in the CASK 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 Q494X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret Q494X as a pathogenic variant.
GenomeConnect, ClinGen RCV000509559 SCV000607158 not provided CASK-Related Disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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