ClinVar Miner

Submissions for variant NM_182758.4(WDR72):c.2019dup (p.Trp674fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018350 SCV004848079 likely pathogenic Amelogenesis imperfecta 2017-08-02 criteria provided, single submitter clinical testing The p.Trp674MetfsX3 variant in WDR72 has not been previously reported in individuals with disease, but has been identified in 5/23,944 of African chromosomes by the Genome Aggregation Consortium gnomAD http://gnomad.broadinstitute.org; dbSNP rs779460257). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 674 and leads to a premature termination codon 3 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Biallelic loss of function of the WDR72 gene is associated to non-syndromic amelogenesis imperfecta. In summary, although additional studies are required to fully establish its clinical significance, the p.Trp674MetfsX3 variant in WDR72 is likely pathogenic.

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