ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2249C>T (p.Thr750Met)

gnomAD frequency: 0.00046  dbSNP: rs145353518
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504295 SCV000597140 uncertain significance not specified 2015-11-24 criteria provided, single submitter clinical testing
Invitae RCV000630853 SCV000751824 uncertain significance Fanconi anemia 2023-11-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 750 of the SLX4 protein (p.Thr750Met). This variant is present in population databases (rs145353518, 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: 436781). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available". The methionine 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 RCV000630853 SCV002529295 uncertain significance Fanconi anemia 2021-10-31 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002476009 SCV002780010 uncertain significance Fanconi anemia complementation group P 2022-02-17 criteria provided, single submitter clinical testing

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