ClinVar Miner

Submissions for variant NM_021922.2(FANCE):c.1424A>G (p.Lys475Arg) (rs200083899)

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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 RCV000283961 SCV000462674 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000460473 SCV000547727 uncertain significance Fanconi anemia, complementation group E 2016-11-16 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 475 of the FANCE protein (p.Lys475Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs200083899, ExAC 0.01%) but has not been reported in the literature in individuals with a FANCE-related disease. 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, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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