ClinVar Miner

Submissions for variant NM_032504.1(UNC80):c.2527C>T (p.Arg843Ter) (rs74517001)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497405 SCV000590075 pathogenic not provided 2017-06-08 criteria provided, single submitter clinical testing The R843X variant in the UNC80 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 R843X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R843X as a pathogenic variant.
GenomeConnect, ClinGen RCV000509402 SCV000607220 not provided UNC80-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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