ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1495C>T (p.Gln499Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018309 SCV004847478 likely pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2024-03-28 criteria provided, single submitter clinical testing The p.Gln499X variant in WDR62 has not been previously reported in individuals with microcephaly but has been identified in 0.00007% (1/1459130) of pan ethnic chromosomes by gnomAD (http://gnomad.broadinstitute.org, v.4.0.0). This nonsense variant leads to a premature termination codon at position 499, which is predicted to lead to a truncated or absent protein. Biallelic loss of function of the WDR62 gene is an established disease mechanism in autosomal recessive microcephaly (with or without cortical malformations). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive primary microcephaly. ACMG/AMP Criteria applied: PVS1, PM2_Supporting.

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