ClinVar Miner

Submissions for variant NM_000538.4(RFXAP):c.455A>G (p.Gln152Arg)

gnomAD frequency: 0.00001  dbSNP: rs373832619
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815784 SCV000956256 uncertain significance MHC class II deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 152 of the RFXAP protein (p.Gln152Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs373832619, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with RFXAP-related conditions. 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 disruptive. 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 RCV004028865 SCV004064910 uncertain significance not specified 2023-07-25 criteria provided, single submitter clinical testing The c.455A>G (p.Q152R) alteration is located in exon 1 (coding exon 1) of the RFXAP gene. This alteration results from a A to G substitution at nucleotide position 455, causing the glutamine (Q) at amino acid position 152 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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