ClinVar Miner

Submissions for variant NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)

gnomAD frequency: 0.00127  dbSNP: rs144973796
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000263615 SCV000345623 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000367922 SCV000430470 uncertain significance Sitosterolemia 1 2018-01-12 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000263615 SCV001766799 uncertain significance not provided 2021-03-22 criteria provided, single submitter clinical testing Identified in the heterozygous state in an adult with unexplained cholestasis (Aamann et al., 2018); Identified with an allele frequency of 0.017% among individuals with familial hypercholesterolemia (Reeskamp et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function This variant is associated with the following publications: (PMID: 29304564, 32088153)
Invitae RCV002059307 SCV002491233 likely benign Sitosterolemia 2021-06-21 criteria provided, single submitter clinical testing
New York Genome Center RCV002467723 SCV002764359 uncertain significance Sitosterolemia 2 2021-09-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000263615 SCV004224875 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920170 SCV004735685 uncertain significance ABCG5-related disorder 2023-10-18 criteria provided, single submitter clinical testing The ABCG5 c.1744G>A variant is predicted to result in the amino acid substitution p.Gly582Arg. This variant was reported with uncertain significance in study of individuals with dyslipidemia and metabolic disorders, however specific details regarding patient phenotype and variant information were not provided (Supplementary Tables S3 and S4, Dron et al. 2020. PubMed ID: 32041611). This variant is reported in 0.49% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-44041634-C-T), which is likely too common to be a primary cause of disease. Although we suspect this variant may be benign, at this time, the clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000263615 SCV001971147 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000263615 SCV001978946 uncertain significance not provided no assertion criteria provided clinical testing

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.