ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.755G>A (p.Gly252Glu)

gnomAD frequency: 0.00001  dbSNP: rs1060501795
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469154 SCV000547453 uncertain significance Fanconi anemia 2020-12-04 criteria provided, single submitter clinical testing In summary, this variant is a novel 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The glutamic acid amino acid residue is also found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. 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 glycine with glutamic acid at codon 252 of the SLX4 protein (p.Gly252Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid.

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