ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1157G>A (p.Trp386Ter) (rs1265252597)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760806 SCV000890701 pathogenic not provided 2018-10-23 criteria provided, single submitter clinical testing A pathogenic variant has been identified in the WDR62 gene. The W386X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The W386X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W386X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Therefore, we interpret W386X as a pathogenic variant.

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