Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001546423 | SCV001765938 | uncertain significance | not provided | 2020-07-07 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001546423 | SCV003262464 | uncertain significance | not provided | 2021-08-13 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with aspartic acid at codon 487 of the DHCR24 protein (p.Gly487Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs776954529, ExAC 0.07%). This variant has not been reported in the literature in individuals affected with DHCR24-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Revvity Omics, |
RCV003146216 | SCV003829076 | uncertain significance | Desmosterolosis | 2022-06-30 | criteria provided, single submitter | clinical testing |