ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6630_6631del (p.Ser2211_Leu2212insTer)

dbSNP: rs1186975248
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002559769 SCV003483975 pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-08-21 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with recessive hypobetalipoproteinemia (PMID: 30782561). This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change creates a premature translational stop signal (p.Leu2212*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 920726).

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