ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.9134C>G (p.Thr3045Ser)

dbSNP: rs1729287990
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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 RCV001591691 SCV001815724 uncertain significance Microcephaly 18, primary, autosomal dominant 2020-11-04 criteria provided, single submitter clinical testing The c.9134C>G (p.Thr3045Ser) missense variant in exon 60 of 68 of WDFY3 (not in any conserved domain)has not been reported in affected individuals in the available literature. This variant is absent in gnomADv3 indicating it is not a common benign variant in the populations represented in this database. In silico predictors suggest this variant is benign (REVEL; score:0.1209) and tolerated (SIFT; score:1). Given the lack of inheritance data and functional studies supporting its pathogenicity, the c.9134C>G (p.Thr3045Ser) variant identified in the WDFY3 gene is reported as a Variantof Uncertain Significance.

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