ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln) (rs143558209)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764060 SCV000895014 uncertain significance Fanconi anemia, complementation group P 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260361 SCV000396860 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000260361 SCV000626411 uncertain significance Fanconi anemia 2017-03-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 862 of the SLX4 protein (p.Arg862Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs143558209, ExAC 0.06%) but has not been reported in the literature in individuals with an SLX4-related disease. ClinVar contains an entry for this variant (Variation ID: 319165). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on 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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