ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1379G>A (p.Arg460His)

gnomAD frequency: 0.00005  dbSNP: rs369994733
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001320568 SCV001511359 uncertain significance Fanconi anemia 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 460 of the SLX4 protein (p.Arg460His). This variant is present in population databases (rs369994733, gnomAD 0.008%). 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: 1020908). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine 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.
Genetic Services Laboratory, University of Chicago RCV001820011 SCV002069506 uncertain significance not specified 2018-08-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV001835606 SCV002096961 uncertain significance Fanconi anemia complementation group P 2021-12-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001835606 SCV002790508 uncertain significance Fanconi anemia complementation group P 2021-09-30 criteria provided, single submitter clinical testing

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