ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.6317C>G (p.Ala2106Gly)

dbSNP: rs2149221110
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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 RCV001591681 SCV001815712 uncertain significance Microcephaly 18, primary, autosomal dominant 2020-11-04 criteria provided, single submitter clinical testing The c.6317C>G (p.Ala2106Gly) variant identified in the WDFY3 gene substitutes a well conserved Alanine for Glycine at amino acid 2106/3527 (exon 39/68). This variant is absent from gnomAD(v3.0) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms predict this variant to be Tolerated (SIFT; score:0.073) and Benign (REVEL; score:0.252). This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. The p.Ala2106 residue is not within a mapped domain of WDFY3 (UniProtKB:Q8IZQ1). Given the lack of compelling evidence for its pathogenicity, the c.6317C>G (p.Ala2106Gly) variant identified in the WDFY3 gene is reported as a Variant of Uncertain Significance.

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