ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.1178G>C (p.Gly393Ala)

gnomAD frequency: 0.00001  dbSNP: rs779249436
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 RCV001361063 SCV001557024 uncertain significance MHC class II deficiency 2022-04-20 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 393 of the RFX5 protein (p.Gly393Ala). This variant is present in population databases (rs779249436, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RFX5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1052810). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004036787 SCV003975410 uncertain significance not specified 2023-04-08 criteria provided, single submitter clinical testing The c.1178G>C (p.G393A) alteration is located in exon 11 (coding exon 9) of the RFX5 gene. This alteration results from a G to C substitution at nucleotide position 1178, causing the glycine (G) at amino acid position 393 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001361063 SCV004049751 uncertain significance MHC class II deficiency 2023-04-11 criteria provided, single submitter 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.