ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.1690A>G (p.Lys564Glu)

dbSNP: rs2233856
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066725 SCV001231742 uncertain significance MHC class II deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 564 of the RFX5 protein (p.Lys564Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs2233856, ExAC 0.001%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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