ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.2165G>C (p.Gly722Ala)

gnomAD frequency: 0.00001  dbSNP: rs779885518
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000300240 SCV000342558 uncertain significance not provided 2016-05-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000300240 SCV003824339 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000300240 SCV004032744 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing ABCB4: PM2, PM3
PreventionGenetics, part of Exact Sciences RCV004543113 SCV004779262 likely pathogenic ABCB4-related disorder 2024-01-17 criteria provided, single submitter clinical testing The ABCB4 c.2165G>C variant is predicted to result in the amino acid substitution p.Gly722Ala. This variant has been reported in the heterozygous or compound heterozygous state in individuals with intrahepatic cholestasis of pregnancy (Patient 9 in Table 1, Dixon et al. 2017. PubMed ID: 28924228; Case 4 in Table 2, Huynh et al. 2019. PubMed ID: 31538484). This variant has also been reported in the compound heterozygous state in two siblings and an unrelated individual with progressive familial intrahepatic cholestasis type 3 (Patients 2, 30, and 31 in Tables 2 and 3, Schatz et al. 2018. PubMed ID: 29761167). This variant is reported in 0.0035% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as likely pathogenic.

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.