ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.133C>T (p.Arg45Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002706069 SCV002990782 pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-08-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with hypobetalipoproteinemia (PMID: 30782561). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg45*) 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).

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