Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001209045 | SCV001380464 | uncertain significance | Cholestanol storage disease | 2021-08-24 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with proline at codon 173 of the CYP27A1 protein (p.Leu173Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. 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: "Benign"; 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. |
Natera, |
RCV001209045 | SCV002078770 | uncertain significance | Cholestanol storage disease | 2020-12-29 | no assertion criteria provided | clinical testing |