ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys)

gnomAD frequency: 0.00005  dbSNP: rs140529288
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680102 SCV000807543 uncertain significance Fanconi anemia complementation group P 2017-09-01 criteria provided, single submitter clinical testing Possible pathogenicity based on finding it once in our laboratory in trans with another variant in an 8-year-old female with limb reduction defects, mild malar hypoplasia, retrognathia, bluish slerae, mild language delay
Invitae RCV000820136 SCV000960832 uncertain significance Fanconi anemia 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1046 of the SLX4 protein (p.Arg1046Cys). This variant is present in population databases (rs140529288, gnomAD 0.03%). 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: 561112). 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 cysteine 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.
Sema4, Sema4 RCV000820136 SCV002529319 uncertain significance Fanconi anemia 2021-05-18 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV000680102 SCV002779553 uncertain significance Fanconi anemia complementation group P 2022-04-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000680102 SCV003823924 uncertain significance Fanconi anemia complementation group P 2019-09-07 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.