ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs) (rs281865425)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208062 SCV001379434 pathogenic Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-07-05 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). 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). Loss-of-function variants in APOB are known to be pathogenic (PMID: 20032471). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000019470 SCV000039760 pathogenic Familial hypobetalipoproteinemia 1992-12-01 no assertion criteria provided literature only

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