ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5913G>A (p.Leu1971=)

gnomAD frequency: 0.00005  dbSNP: rs374251542
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001837779 SCV000284770 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000323520 SCV000427060 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380388 SCV000427061 uncertain significance Hypercholesterolemia, familial, 1 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354639 SCV002653332 likely benign Cardiovascular phenotype 2022-03-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV003422133 SCV004138667 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing APOB: BP4, BP7

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