ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.8052G>A (p.Leu2684=)

gnomAD frequency: 0.00002  dbSNP: rs778351930
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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 RCV001838391 SCV001638779 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2020-10-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003405370 SCV004138661 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing APOB: BP4, BP7
Ambry Genetics RCV005384962 SCV006048217 likely benign Cardiovascular phenotype 2024-12-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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