Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genomics Laboratory, |
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. |