ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.9260G>T (p.Cys3087Phe)

dbSNP: rs1397754824
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002266645 SCV002548683 uncertain significance Microcephaly 18, primary, autosomal dominant 2021-07-16 criteria provided, single submitter clinical testing The c.9260G>T (p.Cys3087Phe) variant identified in the WDFY3 gene substitutes a very well conserved Cysteine for Phenylalanine at amino acid 3087/3527 (exon 61/68). This variant is absent from gnomAD(v3.1.1) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms predict this variant to be Damaging (SIFT; score:0.001) and Benign (REVEL; score:0.4519) to the function of the canonical transcript. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. The p.Cys3087 residue is within the first WD domain of WDFY3 (UniProtKB:Q8IZQ1). Given the lack of compelling evidence for its pathogenicity, the c.9260G>T (p.Cys3087Phe) variant identified in the WDFY3 gene is reported as a Variant of Uncertain Significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.