ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.543G>A (p.Lys181=)

dbSNP: rs2102065030
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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 RCV001967247 SCV002205612 uncertain significance MHC class II deficiency 2021-10-16 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. This variant has not been reported in the literature in individuals affected with RFX5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 181 of the RFX5 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RFX5 protein.

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