ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5386A>G (p.Arg1796Gly)

gnomAD frequency: 0.00001  dbSNP: rs770529698
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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 RCV000534866 SCV000626451 uncertain significance Fanconi anemia 2017-03-22 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an SLX4-related disease. This sequence change replaces arginine with glycine at codon 1796 of the SLX4 protein (p.Arg1796Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. 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 C45"). 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.

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