ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter)

gnomAD frequency: 0.00001  dbSNP: rs121918390
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001837439 SCV001591724 pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-09-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2522*) 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 present in population databases (rs121918390, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with clinical features of APOB-related conditions (PMID: 1424233, 22544856). ClinVar contains an entry for this variant (Variation ID: 17895). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000019484 SCV000039781 pathogenic Familial hypobetalipoproteinemia 1988-11-01 no assertion criteria provided literature only
Metabolic Liver Diseases Lab, Fondazione IRCCS Ca Granda Policlinico, University of Milan RCV001027451 SCV001190019 likely pathogenic Familial hypobetalipoproteinemia 1 2018-12-01 no assertion criteria provided case-control

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