Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001757086 | SCV001996616 | uncertain significance | not provided | 2019-11-12 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001757086 | SCV002135762 | uncertain significance | not provided | 2022-01-17 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 155 of the DHCR24 protein (p.Val155Met). This variant is present in population databases (rs138933459, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with DHCR24-related conditions. ClinVar contains an entry for this variant (Variation ID: 1310018). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Fulgent Genetics, |
RCV002489774 | SCV002786948 | uncertain significance | Desmosterolosis | 2021-07-14 | criteria provided, single submitter | clinical testing |