ClinVar Miner

Submissions for variant NM_000041.4(APOE):c.761T>A (p.Val254Glu)

gnomAD frequency: 0.00050  dbSNP: rs199768005
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001579858 SCV003933326 uncertain significance not provided 2022-12-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as APOE3-Jacksonville, APOE3-Jac, and p.(V236E); Has not been previously published in association with dyslipidemia to our knowledge; This variant is associated with the following publications: (PMID: 25560647, 32808727, 34058468, 24607147, 34586832)
OMIM RCV004559221 SCV000039744 pathogenic Familial type 3 hyperlipoproteinemia 1993-05-01 no assertion criteria provided literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579858 SCV001808768 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701092 SCV001919690 benign not specified no assertion criteria provided clinical testing

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