ClinVar Miner

Submissions for variant NM_005360.5(MAF):c.905C>T (p.Ala302Val)

dbSNP: rs1481963503
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 RCV000533204 SCV000655016 likely pathogenic Cataract 21 multiple types; Ayme-Gripp syndrome 2018-01-12 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been reported to be de novo in an individual affected with bilateral congenital cataracts (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 302 of the MAF protein (p.Ala302Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.
Molecular Medicine, University of Pavia RCV003486884 SCV004023263 likely pathogenic Cataract 21 multiple types 2023-07-28 criteria provided, single submitter research

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.