ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.151-1G>T

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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 RCV002881149 SCV003233978 pathogenic MHC class II deficiency 2022-09-12 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 4 of the RFX5 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in deletion of 4 nucleotides and introduces a premature termination codon (PMID: 10079298). The resulting mRNA is expected to undergo nonsense-mediated decay. Studies have shown that disruption of this splice site alters RFX5 gene expression (PMID: 10079298). Disruption of this splice site has been observed in individual(s) with MHC class II deficiency (PMID: 10079298). This variant is not present in population databases (gnomAD no frequency).

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