ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4750C>T (p.Arg1584Cys) (rs560866356)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000380940 SCV000396822 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000380940 SCV000547479 uncertain significance Fanconi anemia 2018-03-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1584 of the SLX4 protein (p.Arg1584Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs560866356, ExAC 0.01%). This variant has not been reported in the literature in individuals with SLX4-related disease. ClinVar contains an entry for this variant (Variation ID: 319149). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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