Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001262207 | SCV001439994 | uncertain significance | Hypertriglyceridemia 1 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001650829 | SCV001863723 | benign | not provided | 2018-11-07 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27813673, 31901151, 31619059, 30132804, 30420299, 29263402, 28548292, 27516387, 26079787, 26690388, 25843152, 12915450, 21423763, 20134407, 25487149, 22008704, 25127531, 18635818) |
Labcorp Genetics |
RCV001650829 | SCV002429578 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345230 | SCV002651692 | benign | Cardiovascular phenotype | 2019-05-24 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004525843 | SCV005040382 | likely benign | not specified | 2024-03-05 | criteria provided, single submitter | clinical testing | Variant summary: APOA5 c.553G>T (p.Gly185Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0064 in 248436 control chromosomes, predominantly at a frequency of 0.067 within the East Asian subpopulation in the gnomAD database, including 54 homozygotes. The observed variant frequency within East Asian control individuals in the gnomAD database is approximately 1005 fold of the estimated maximal expected allele frequency for a pathogenic variant in APOA5 causing Hypertriglyceridemia phenotype (6.7e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of East Asian origin. The following publications have been ascertained in the context of this evaluation (PMID: 18635818, 25127531, 20657596). ClinVar contains an entry for this variant (Variation ID: 4402). Based on the evidence outlined above, the variant was classified as likely benign. |
OMIM | RCV001262207 | SCV000024826 | risk factor | Hypertriglyceridemia 1 | 2003-10-01 | no assertion criteria provided | literature only |