ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1941C>A (p.Cys647Ter)

gnomAD frequency: 0.00002  dbSNP: rs769688376
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000330039 SCV000330566 pathogenic not provided 2016-06-02 criteria provided, single submitter clinical testing The C647X nonsense variant in the WDR62 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been reported previously to our knowledge, other loss-of-function variants have been reported in the Human Gene Mutation Database in association with microcephaly and brain malformations (Stenson et al., 2014). Therefore, the C647X variant is considered to be pathogenic.
Eurofins Ntd Llc (ga) RCV000330039 SCV000856107 pathogenic not provided 2017-08-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763424 SCV000894189 pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2018-10-31 criteria provided, single submitter clinical testing

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