ClinVar Miner

Submissions for variant NM_005989.4(AKR1D1):c.157G>A (p.Asp53Asn)

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 RCV002681186 SCV002981488 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with AKR1D1-related conditions. This variant is present in population databases (rs766798731, gnomAD 0.01%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 53 of the AKR1D1 protein (p.Asp53Asn).
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV003235736 SCV003933664 uncertain significance Congenital bile acid synthesis defect 2 2023-06-21 criteria provided, single submitter clinical testing This homozygous variant c.157G>A (p.Asp53Asn) has been identified in a proband who presented with jaundice, high hepatic transaminases and failure to thrive. This variant is found in gnomAD-0.0012% and ExAc-0.0008%. This variant is also present in an 8 year old unaffected female sibling in the homozygous state.

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.