ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.2575C>T (p.Gln859Ter)

dbSNP: rs1006898944
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623794 SCV000741084 pathogenic Inborn genetic diseases 2015-10-23 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV004576959 SCV005061186 likely pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations criteria provided, single submitter clinical testing The observed stop gained c.2575C>T(p.Gln859Ter) variant in WDR62 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The c.2575C>T variant is absent in gnomAD Exomes. This variant has been submitted to the ClinVar database as Pathogenic. The nucleotide change c.2575C>T in WDR62 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Computational evidence (MutationTaster - Disease causing) predicts a damaging effect on protein structure and function for this variant. This sequence change creates a premature translational stop signal (p.Gln859Ter) in the WDR62 gene. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. In absence of another reportable variant in WDR62 gene, the molecular diagnosis is not confirmed.

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