ClinVar Miner

Submissions for variant NM_000078.3(CETP):c.1376A>G (p.Asp459Gly)

gnomAD frequency: 0.00066  dbSNP: rs2303790
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000032602 SCV000398225 benign Hyperalphalipoproteinemia 1 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001560193 SCV001782554 uncertain significance not provided 2023-06-26 criteria provided, single submitter clinical testing Reported as a common variant in the East Asian population and is associated with increased HDL-C levels; however, this variant is not associated with decreased LDL-C levels and there is no evidence of a cardioprotective effect (Takahashi et al., 1993; Inazu et al., 1994; Thompson et al., 2009; Khovidhunkit et al., 2012; Millwood et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Functional studies demonstrate that this variant leads to a decrease of CETP activity (Takahashi et al., 1993; Thompson et al., 2009); This variant is associated with the following publications: (PMID: 24497850, 28173125, 8408659, 27516387, 18468607, 25525159, 27896098, 7962532, 25629512, 19444232, 26690388, 29083407, 22464213, 21354572, 27659420, 29141072, 9116424, 31180159, 33358712, 20981092, 12482565, 34426522, 7605382, 7989465, 35174233, 34011801)
OMIM RCV000032602 SCV000056356 pathogenic Hyperalphalipoproteinemia 1 1995-04-24 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.