Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV003333618 | SCV004041378 | likely pathogenic | Familial hypobetalipoproteinemia 1 | 2023-03-02 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003333617 | SCV004041479 | likely pathogenic | Hypercholesterolemia, autosomal dominant, type B | 2023-03-02 | criteria provided, single submitter | clinical testing | |
| Laboratory for Molecular Medicine, |
RCV004017983 | SCV004847974 | likely pathogenic | Hypobetalipoproteinemia | 2015-12-22 | criteria provided, single submitter | clinical testing | The c.78_82+5del variant in APOB has not been previously reported in individuals with hypobetalipoproteinemia. Data from large population studies is insufficient to assess the frequency of this variant. This 10 base pair deletion removes the last 5 bases of exon 1 and the first 5 bases of intron 1, which contain the highly conserved +1 and +2 positions in the 5' splice site consensus sequence. This deletion is expected to disrupt splicing and lead to an abnormal or absent protein. Heterozygous loss of function of the APOB gene is associated with hypobetalipoproteinemia (Welty 2014, Burnett 2015). In summary, although additional studies are required to fully establish its clinical significance, the c.78_82+5del variant is likely pathogenic. |