Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001837439 | SCV001591724 | pathogenic | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-09-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg2522*) 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). This variant is present in population databases (rs121918390, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with clinical features of APOB-related conditions (PMID: 1424233, 22544856). ClinVar contains an entry for this variant (Variation ID: 17895). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000019484 | SCV000039781 | pathogenic | Familial hypobetalipoproteinemia | 1988-11-01 | no assertion criteria provided | literature only | |
Metabolic Liver Diseases Lab, |
RCV001027451 | SCV001190019 | likely pathogenic | Familial hypobetalipoproteinemia 1 | 2018-12-01 | no assertion criteria provided | case-control |