ClinVar Miner

Submissions for variant NM_000538.4(RFXAP):c.353C>T (p.Ser118Leu)

gnomAD frequency: 0.00001  dbSNP: rs1227387067
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
Invitae RCV001055301 SCV001219688 uncertain significance MHC class II deficiency 2021-10-09 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces serine with leucine at codon 118 of the RFXAP protein (p.Ser118Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant has not been reported in the literature in individuals affected with RFXAP-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.

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.