Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001851946 | SCV002232418 | pathogenic | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-09-10 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with familial hypobetalipoproteinemia (PMID: 2843815, 33207932). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1333*) 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). This variant is also known as Arg1306->Term. ClinVar contains an entry for this variant (Variation ID: 17883). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV003225024 | SCV003921458 | pathogenic | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Also known as p.R1306*; This variant is associated with the following publications: (PMID: 27153395, 30782561, 25430706, 33207932, 2843815, 33111339, 33339817) |
OMIM | RCV000019472 | SCV000039763 | pathogenic | Familial hypobetalipoproteinemia | 1988-09-12 | no assertion criteria provided | literature only |