ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9322G>A (p.Glu3108Lys)

gnomAD frequency: 0.00033  dbSNP: rs140240214
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001838397 SCV001420336 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284271 SCV001469956 uncertain significance not provided 2019-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002375087 SCV002686737 benign Cardiovascular phenotype 2022-08-09 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV001838397 SCV002778794 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001284271 SCV005331850 uncertain significance not provided 2023-10-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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