ClinVar Miner

Submissions for variant NM_000041.4(APOE):c.434G>A (p.Gly145Asp)

gnomAD frequency: 0.00013  dbSNP: rs267606664
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262660 SCV001440609 uncertain significance Hypercholesterolemia 2019-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476210 SCV002794308 uncertain significance Alzheimer disease 3; Alzheimer disease 2; Alzheimer disease 4; Age related macular degeneration 1; Sea-blue histiocyte syndrome; Lipoprotein glomerulopathy; Familial type 3 hyperlipoproteinemia 2022-03-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004984986 SCV005473028 uncertain significance Cardiovascular phenotype 2024-10-18 criteria provided, single submitter clinical testing The p.G145D variant (also known as c.434G>A), located in coding exon 3 of the APOE gene, results from a G to A substitution at nucleotide position 434. The glycine at codon 145 is replaced by aspartic acid, an amino acid with similar properties. This variant has been reported in individual(s) in dyslipidemia cohorts, but clinical details were limited, and it has been seen in conjunction with additional related alterations, including the APOE homozygous ε2 allele (Iron A et al. J Inherit Metab Dis, 1995;18:723-6; Feussner G et al. Hum Mutat, 1998;11:417-23; Civeira F et al. Am Heart J, 1999 Jul;138:156-62; Evans D et al. J Clin Lipidol, 2013 May;7:671-4; Cefalù AB et al. J Clin Lipidol, 2017 Jan;11:272-281.e8; Le R et al. J Investig Med High Impact Case Rep, 2019;7:2324709619877050; Rasmussen KL et al. Alzheimers Dement, 2020 Dec;16:1624-1637; Limonova AS et al. Front Cardiovasc Med, 2020 Jan;7:585779). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579351 SCV001806890 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001579351 SCV001925565 uncertain significance not provided no assertion criteria provided clinical testing

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