ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.254A>G (p.Gln85Arg)

dbSNP: rs878855160
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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 RCV000230685 SCV000291070 uncertain significance Fanconi anemia 2016-03-19 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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: "Benign"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SLX4-related disease. This sequence change replaces glutamine with arginine at codon 85 of the SLX4 protein (p.Gln85Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine.

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