ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.115C>A (p.Pro39Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004785802 SCV005400849 uncertain significance Microcephaly 18, primary, autosomal dominant 2023-06-22 criteria provided, single submitter clinical testing The observed missense c.115C>A (p.Pro39Thr) variant in WDFY3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Pro39Thr variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Computational evidence (Polyphen - Benign, SIFT - Tolerated and MutationTaster - Disease causing) predicts conflicting evidence on protein structure and function for this variant. The reference amino acid of p.Pro39Thr in WDFY3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Pro at position 39 is changed to a Thr changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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