ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.4258C>T (p.Leu1420=)

gnomAD frequency: 0.00001  dbSNP: rs1483573722
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003117823 SCV003789623 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003293954 SCV003995474 likely benign Cardiovascular phenotype 2023-05-01 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 RCV003425981 SCV004138669 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing APOB: BP4, BP7

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