Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001270704 | SCV001451447 | likely pathogenic | Acrodysostosis 2 with or without hormone resistance | 2019-08-02 | criteria provided, single submitter | clinical testing | The PDE4D c.2051A>G (p.Glu684Gly) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Glu684Gly variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. The Glu684 residue maps to the PDEase domain, which is a conserved catalytic region (Johnston et al. 2004). Based on the variant's identification in a de novo state, its rarity, and low rates of benign variants in the PDE4D gene, the p.Glu684Gly variant is classified as likely pathogenic for acrodysostosis type 2. |