ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.421G>C (p.Gly141Arg)

dbSNP: rs137976282
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001345566 SCV001539695 uncertain significance Fanconi anemia 2024-01-03 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 141 of the SLX4 protein (p.Gly141Arg). This variant is present in population databases (rs137976282, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1041719). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine 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.
GeneDx RCV001751674 SCV002007809 uncertain significance not provided 2019-06-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002486406 SCV002776787 uncertain significance Fanconi anemia complementation group P 2022-02-10 criteria provided, single submitter clinical testing

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