ClinVar Miner

Submissions for variant NM_003721.4(RFXANK):c.337+5G>A

gnomAD frequency: 0.00009  dbSNP: rs752168879
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707632 SCV000836734 uncertain significance MHC class II deficiency 2022-02-08 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the RFXANK gene. It does not directly change the encoded amino acid sequence of the RFXANK protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs752168879, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with RFXANK-related conditions. ClinVar contains an entry for this variant (Variation ID: 583327). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003480798 SCV004224593 uncertain significance not provided 2022-07-14 criteria provided, single submitter clinical testing

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