ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12696T>A (p.Tyr4232Ter)

gnomAD frequency: 0.00001  dbSNP: rs1466172660
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia RCV001255937 SCV001432582 pathogenic Hypercholesterolemia, familial, 1 2019-01-25 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002534034 SCV003249625 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr4232*) in the APOB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 332 amino acid(s) of the APOB protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with familial hypercholesterolemia (PMID: 31345425). ClinVar contains an entry for this variant (Variation ID: 628375). This variant disrupts a region of the APOB protein in which other variant(s) (p.Tyr4380*) have been observed in individuals with APOB-related conditions (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV003147545 SCV003835384 likely pathogenic Hypercholesterolemia, autosomal dominant, type B 2022-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147546 SCV003836005 likely pathogenic Familial hypobetalipoproteinemia 1 2022-11-04 criteria provided, single submitter clinical testing
Lildballe Lab, Aarhus University Hospital RCV004773127 SCV005200539 likely pathogenic Hypercholesterolemia 2024-03-01 criteria provided, single submitter research PS4(sup), PM2(sup), pVS1(m)

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