Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001838020 | SCV000777016 | pathogenic | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-01-24 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 544071). This variant has not been reported in the literature in individuals affected with APOB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr2535*) 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). For these reasons, this variant has been classified as Pathogenic. |