ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4021A>G (p.Arg1341Gly)

gnomAD frequency: 0.00002  dbSNP: rs747230215
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989495 SCV001139908 uncertain significance Fanconi anemia complementation group A 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001213345 SCV001384971 uncertain significance Fanconi anemia 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 1341 of the SLX4 protein (p.Arg1341Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs747230215, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002488081 SCV002788124 uncertain significance Fanconi anemia complementation group P 2022-04-14 criteria provided, single submitter clinical testing

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