ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.1550C>A (p.Pro517Gln)

gnomAD frequency: 0.00001  dbSNP: rs765687423
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001280297 SCV003312231 uncertain significance MHC class II deficiency 2022-02-06 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 991991). This variant has not been reported in the literature in individuals affected with CIITA-related conditions. This variant is present in population databases (rs765687423, gnomAD 0.007%). This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 517 of the CIITA protein (p.Pro517Gln).
Ambry Genetics RCV003263919 SCV003956598 uncertain significance Inborn genetic diseases 2023-04-19 criteria provided, single submitter clinical testing The c.1550C>A (p.P517Q) alteration is located in exon 11 (coding exon 11) of the CIITA gene. This alteration results from a C to A substitution at nucleotide position 1550, causing the proline (P) at amino acid position 517 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001280297 SCV001467463 uncertain significance MHC class II deficiency 2020-04-24 no assertion criteria provided clinical testing

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.