ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.43T>C (p.Phe15Leu)

dbSNP: rs2136433362
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001992299 SCV002284434 uncertain significance Hyper-IgM syndrome type 2 2022-02-05 criteria provided, single submitter clinical testing Experimental studies have shown that this missense change affects AICDA function (PMID: 22715099, 23803409). 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: "Benign"; Align-GVGD: "Class C0"). This missense change has been observed in individual(s) with Hyper-IgM (HIGM) syndrome type 2 (PMID: 23803409). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 15 of the AICDA protein (p.Phe15Leu).

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.