ClinVar Miner

Submissions for variant NM_003721.4(RFXANK):c.47C>A (p.Thr16Asn)

dbSNP: rs764499202
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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 RCV001245444 SCV001418734 uncertain significance MHC class II deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 16 of the RFXANK protein (p.Thr16Asn). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and asparagine. This variant is not present in population databases (ExAC no frequency). 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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