ClinVar Miner

Submissions for variant NM_000538.4(RFXAP):c.273C>G (p.Asp91Glu)

gnomAD frequency: 0.00004  dbSNP: rs770867769
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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 RCV001923216 SCV002179097 uncertain significance MHC class II deficiency 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 91 of the RFXAP protein (p.Asp91Glu). This variant is present in population databases (rs770867769, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RFXAP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1412370). 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 glutamic acid 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 RCV004043364 SCV003896040 uncertain significance not specified 2023-02-06 criteria provided, single submitter clinical testing The c.273C>G (p.D91E) alteration is located in exon 1 (coding exon 1) of the RFXAP gene. This alteration results from a C to G substitution at nucleotide position 273, causing the aspartic acid (D) at amino acid position 91 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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