ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10276G>A (p.Ala3426Thr)

gnomAD frequency: 0.00004  dbSNP: rs753767897
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001838024 SCV000777023 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001838024 SCV002787092 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303082 SCV004000641 likely benign Cardiovascular phenotype 2023-04-18 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005231246 SCV005876313 uncertain significance not provided 2024-01-24 criteria provided, single submitter clinical testing The APOB c.10276G>A; p.Ala3426Thr variant (rs753767897), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 544075). This variant is only observed on two alleles in the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. Computational analyses predict that this variant is neutral (REVEL: 0.104). Due to limited information, the clinical significance of this variant is uncertain at this time.

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