ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.1490G>C (p.Arg497Thr)

dbSNP: rs1650547272
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038441 SCV001201908 uncertain significance MHC class II deficiency 2019-05-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with threonine at codon 497 of the RFX5 protein (p.Arg497Thr). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RFX5-related conditions. 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.

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