ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13181T>C (p.Val4394Ala)

gnomAD frequency: 0.00017  dbSNP: rs12720843
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455704 SCV000538335 uncertain significance not specified 2017-03-01 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 2 papers from HGMD. Fochier 2005 (16250003) detected variant in 1 individual with FH but no additional information. Huijgen 2010 (20506408) found that this variant doesn't segregate with hypercholesterolemia (LDL levels) in 6 families vs non-carriers. Low freq in ExAC.
Labcorp Genetics (formerly Invitae), Labcorp RCV001837904 SCV000659267 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2025-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379405 SCV002694760 likely benign Cardiovascular phenotype 2023-09-05 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.
Fulgent Genetics, Fulgent Genetics RCV001837904 SCV002814365 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-07-28 criteria provided, single submitter clinical testing

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