Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001851950 | SCV002240376 | pathogenic | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2022-02-22 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 17901). This premature translational stop signal has been observed in individuals with familial hypobetalipoproteinemia (PMID: 12872264, 15984016). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1200*) 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. |
OMIM | RCV001837442 | SCV000039787 | pathogenic | Familial hypobetalipoproteinemia 1 | 2005-07-01 | no assertion criteria provided | literature only |