ClinVar Miner

Submissions for variant NM_000041.4(APOE):c.127C>T (p.Arg43Cys)

gnomAD frequency: 0.00001  dbSNP: rs121918399
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Precision Medicine Center, Zhengzhou University RCV000019468 SCV001593020 likely pathogenic Lipoprotein glomerulopathy criteria provided, single submitter research PM2:at extremely low frequency in gnomAD PP2:Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product PP4:Patient's phenotype is highly specific for a disease
Fulgent Genetics, Fulgent Genetics RCV002496418 SCV002813903 likely pathogenic Alzheimer disease 3; Alzheimer disease 2; Alzheimer disease 4; Age related macular degeneration 1; Sea-blue histiocyte syndrome; Lipoprotein glomerulopathy; Familial type 3 hyperlipoproteinemia 2022-02-24 criteria provided, single submitter clinical testing
3billion RCV000019468 SCV004013623 pathogenic Lipoprotein glomerulopathy criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Missense changes are a common disease-causing mechanism. Functional studies provide moderate evidence of the variant having a damaging effect on the gene or gene product (PMID: 10432380). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.60; 3Cnet: 0.07). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000017880 / PMID: 10529625). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000019468 SCV000039758 pathogenic Lipoprotein glomerulopathy 2007-12-13 no assertion criteria provided literature only

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