ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2480A>G (p.Glu827Gly)

dbSNP: rs1488400493
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001953347 SCV002218430 uncertain significance Fanconi anemia 2021-07-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 827 of the SLX4 protein (p.Glu827Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is not present in population databases (ExAC no frequency). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002492056 SCV002797609 uncertain significance Fanconi anemia complementation group P 2021-08-09 criteria provided, single submitter clinical testing

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