ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.2673C>G (p.Asp891Glu)

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
Invitae RCV003750047 SCV004431591 uncertain significance 46,XY sex reversal 9 2023-12-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 891 of the ZFPM2 protein (p.Asp891Glu). This variant is present in population databases (rs567353284, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ZFPM2-related conditions. 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 tolerated. 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.
PreventionGenetics, part of Exact Sciences RCV003966561 SCV004778536 uncertain significance ZFPM2-related disorder 2024-02-27 criteria provided, single submitter clinical testing The ZFPM2 c.2673C>G variant is predicted to result in the amino acid substitution p.Asp891Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.