Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001875772 | SCV002230770 | pathogenic | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2021-06-02 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with APOB-related conditions. ClinVar contains an entry for this variant (Variation ID: 917844). This sequence change creates a premature translational stop signal (p.Arg3391Glyfs*3) in the APOB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APOB are known to be pathogenic (PMID: 20032471). |
GBinsight Genetic Testing by GB Health |
RCV001175120 | SCV001313546 | likely pathogenic | Familial hypobetalipoproteinemia 1 | 2020-05-27 | no assertion criteria provided | clinical testing | Proband referred for clinical genetic testing presented very low plasma lipid levels including triglycerides and cholesterol and with elevated hepatic enzyme levels. Clinical genetic testing identified heterozygosity for the p.Arg3391GlyfsTer3 (NM_000384.3:c.10171delA) genetic variant in the germline. Phenotype segregated with genotype in family members. |