ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.1415A>T (p.Lys472Met)

gnomAD frequency: 0.00001  dbSNP: rs1265793800
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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 RCV000697729 SCV000826355 uncertain significance MHC class II deficiency 2020-05-15 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RFX5-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with methionine at codon 472 of the RFX5 protein (p.Lys472Met). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and methionine. 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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