ClinVar Miner

Submissions for variant NM_005689.4(ABCB6):c.2314G>T (p.Val772Phe)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003440177 SCV004151426 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing ABCB6: BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV003440177 SCV004278030 uncertain significance not provided 2023-06-22 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with Peters' anomaly (PMID: 35170016). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is present in population databases (rs201416447, gnomAD 0.03%). This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 772 of the ABCB6 protein (p.Val772Phe).

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.