ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.1012C>T (p.Arg338Cys)

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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 RCV003056720 SCV003446358 uncertain significance MHC class II deficiency 2022-04-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 338 of the RFX5 protein (p.Arg338Cys). This variant is present in population databases (rs752592050, gnomAD 0.007%). This missense change has been observed in individual(s) with very early onset inflammatory bowel disease (PMID: 26193622). 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 cysteine 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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