ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.1189G>A (p.Gly397Arg)

dbSNP: rs2102060483
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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 RCV001919640 SCV002189114 uncertain significance MHC class II deficiency 2021-10-24 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. This variant has not been reported in the literature in individuals affected with RFX5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, a(n) neutral and non-polar amino acid, with arginine, a(n) basic and polar amino acid, at codon 397 of the RFX5 protein (p.Gly397Arg).

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