Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002496419 | SCV002806017 | pathogenic | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2021-09-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002496419 | SCV004569107 | pathogenic | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2022-12-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 17892). This variant is also known as a single nucleotide deletion in exon 26 (cDNA nucleotide 9327). This premature translational stop signal has been observed in individual(s) with hypobetalipoproteinemia (PMID: 2022744). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys3067Argfs*2) 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). |
OMIM | RCV000019481 | SCV000039777 | pathogenic | Familial hypobetalipoproteinemia | 1991-05-01 | no assertion criteria provided | literature only |