ClinVar Miner

Submissions for variant NM_001371904.1(APOA5):c.553G>T (p.Gly185Cys)

gnomAD frequency: 0.00514  dbSNP: rs2075291
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262207 SCV001439994 uncertain significance Hypertriglyceridemia 1 2019-01-01 criteria provided, single submitter clinical testing
GeneDx 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 (formerly Invitae), Labcorp 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, LabCorp 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.