ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.1114G>C (p.Gly372Arg)

dbSNP: rs968244065
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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 RCV000796968 SCV000936504 uncertain significance MHC class II deficiency 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 372 of the RFX5 protein (p.Gly372Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RFX5-related conditions. 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 arginine 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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