ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.359C>A (p.Ser120Tyr)

gnomAD frequency: 0.00001  dbSNP: rs587784558
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147962 SCV000195455 likely pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2012-11-29 criteria provided, single submitter clinical testing
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV000147962 SCV001439877 likely pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations criteria provided, single submitter research Analysis of the exome sequencing data showed a novel homozygous sequence variant in WDR62 gene. This variant is predicted as Disease Causing by MutationTaster. This variant is not found in ExAC and 1000G databases in homozygous form. Sanger sequencing confirmed the variation in the proband. Parents are heterozygous for the same variation.

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