ClinVar Miner

Submissions for variant NM_052947.4(ALPK2):c.3631G>A (p.Val1211Ile)

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
Ambry Genetics RCV004049281 SCV002615971 uncertain significance not specified 2022-09-16 criteria provided, single submitter clinical testing The p.V1211I variant (also known as c.3631G>A), located in coding exon 4 of the ALPK2 gene, results from a G to A substitution at nucleotide position 3631. The valine at codon 1211 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003961000 SCV004768999 benign ALPK2-related disorder 2019-12-05 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.