Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Precision Medicine Center, |
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, |
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 |