ClinVar Miner

Submissions for variant NM_000041.4(APOE):c.487C>T (p.Arg163Cys) (rs769455)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000884152 SCV001027508 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000019432 SCV000039721 pathogenic Familial type 3 hyperlipoproteinemia 1988-11-01 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000019432 SCV001142489 likely pathogenic Familial type 3 hyperlipoproteinemia 2020-01-06 no assertion criteria provided curation NM_000041.2:c.487C>T in the APOE gene has an allele frequency of 0.021 in African subpopulation in the gnomAD database. The p.Arg163Cys (NM_000041.2:c.487C>T) variant has been reported to be associated with type III hyperlipoproteinemia (PMID: 25502880; 26802169). In vitro functional studies suggest that the p.Arg163Cys variant may affect protein function (PMID: 26802169). Pathogenic computational verdict because pathogenic predictions from DANN, DEOGEN2, EIGEN, FATHMM-MKL, MVP, MutationAssessor, MutationTaster, REVEL and SIFT. Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP Criteria applied: PS3; PP4; PP3.

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