ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.4559T>A (p.Phe1520Tyr)

dbSNP: rs1745325272
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839148 SCV002099074 uncertain significance Microcephaly 18, primary, autosomal dominant 2021-03-12 criteria provided, single submitter clinical testing The inherited c.4559T>A (p.Phe1520Tyr) variant identified in the WDFY3 gene substitutes a well conserved Phenylalanine for Tyrosine at amino acid 1520/3527 (exon 28/68). This variant is absent from gnomAD(v3.1) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms predict this variant to beTolerated (SIFT; score:0.278) and Benign (REVEL; score:0.1129) 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.Phe1520 residue is not within a mapped domain of WDFY3 (UniProtKB:Q8IZQ1). Given the lack of compelling evidence for its pathogenicity, the inherited c.4559T>A (p.Phe1520Tyr) variant identified in the WDFY3 gene is reported as a Variant of Uncertain Significance.

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