ClinVar Miner

Submissions for variant NM_003721.4(RFXANK):c.623C>T (p.Ala208Val)

gnomAD frequency: 0.00006  dbSNP: rs140748502
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647946 SCV000769753 uncertain significance MHC class II deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 208 of the RFXANK protein (p.Ala208Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs140748502, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with RFXANK-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. 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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