Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001875998 | SCV002245944 | pathogenic | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2020-12-22 | 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 been observed as heterozygous in a large family with hypobetalipoproteinemia (PMID: 8354962). This variant is also known as a 5 bp deletion resulting in a frameshift at amino acid residue 2357. ClinVar contains an entry for this variant (Variation ID: 921367). This sequence change creates a premature translational stop signal (p.Val2384Aspfs*6) 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). |