ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.8901+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV003458988 SCV004177073 likely pathogenic Microcephaly 18, primary, autosomal dominant 2023-10-02 criteria provided, single submitter clinical testing The WDFY3 c.8901+1G>A variant, to our knowledge, has not been reported in the medical literature in an affected individual and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. This variant occurs within the canonical splice donor site, which is predicted to cause skipping of the exon, leading to an in-frame transcript lacking 71 amino acids in the BEACH domain (Le Duc D et al., PMID: 31327001). Based on available information and the ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as likely pathogenic.

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