ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.487C>A (p.Pro163Thr)

gnomAD frequency: 0.00021  dbSNP: rs555184617
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 RCV000798255 SCV000937860 uncertain significance MHC class II deficiency 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 163 of the CIITA protein (p.Pro163Thr). This variant is present in population databases (rs555184617, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with CIITA-related conditions. ClinVar contains an entry for this variant (Variation ID: 644359). 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"). 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.
Ambry Genetics RCV003279073 SCV004008483 uncertain significance Inborn genetic diseases 2023-04-19 criteria provided, single submitter clinical testing The c.487C>A (p.P163T) alteration is located in exon 7 (coding exon 7) of the CIITA gene. This alteration results from a C to A substitution at nucleotide position 487, causing the proline (P) at amino acid position 163 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000798255 SCV001462164 uncertain significance MHC class II deficiency 2020-03-17 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.