ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.766G>A (p.Glu256Lys)

gnomAD frequency: 0.00004  dbSNP: rs779122234
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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 RCV001237594 SCV001410360 uncertain significance MHC class II deficiency 2019-10-12 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with RFX5-related conditions. This variant is present in population databases (rs779122234, ExAC 0.01%). This sequence change replaces glutamic acid with lysine at codon 256 of the RFX5 protein (p.Glu256Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine.

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