Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001856118 | SCV002131215 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2021-09-10 | criteria provided, single submitter | clinical testing | 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: "Probably 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. This variant has not been reported in the literature in individuals with APOB-related disease. This variant is present in population databases (rs778467805, ExAC 0.01%). This sequence change replaces glutamine with histidine at codon 845 of the APOB protein (p.Gln845His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. |
Revvity Omics, |
RCV003141761 | SCV003826855 | uncertain significance | not provided | 2019-09-11 | criteria provided, single submitter | clinical testing |