Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470110 | SCV000541946 | pathogenic | Familial hypobetalipoproteinemia 1 | 2016-07-31 | criteria provided, single submitter | clinical testing | This sequence change inserts 1 nucleotide in exon 26 of the APOB mRNA (c.5116dupA), causing a frameshift at codon 1706. This creates a premature translational stop signal (p.Thr1706Asnfs*32) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in APOB are known to be pathogenic in the context of hypobetalipoproteinemia (PMID: 17570373, 22855658). For these reasons, this variant has been classified as Pathogenic. |
Invitae | RCV001837914 | SCV001588675 | pathogenic | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2016-07-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in APOB are known to be pathogenic in the context of hypobetalipoproteinemia (PMID: 17570373, 22855658). This sequence change inserts 1 nucleotide in exon 26 of the APOB mRNA (c.5116dupA), causing a frameshift at codon 1706. This creates a premature translational stop signal (p.Thr1706Asnfs*32) and is expected to result in an absent or disrupted protein product. |