ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.1211G>A (p.Gly404Glu)

gnomAD frequency: 0.00004  dbSNP: rs142021660
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001326096 SCV001517110 uncertain significance MHC class II deficiency 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 404 of the RFX5 protein (p.Gly404Glu). This variant is present in population databases (rs142021660, gnomAD 0.02%). 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: 1025740). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; 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.

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