ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs)

dbSNP: rs281865425
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001837436 SCV001379434 pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2019-06-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in APOB are known to be pathogenic (PMID: 20032471). This variant has been observed to segregate with hypobetalipoproteinemia in a family (PMID: 3473077, 3399894). This variant is also known as 4-bp deletion in the apo-B gene. ClinVar contains an entry for this variant (Variation ID: 17881). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn1755Valfs*2) in the APOB gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV001837436 SCV002816917 pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-11-09 criteria provided, single submitter clinical testing
OMIM RCV000019470 SCV000039760 pathogenic Familial hypobetalipoproteinemia 1992-12-01 no assertion criteria provided literature only

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