ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.467C>A (p.Thr156Lys)

gnomAD frequency: 0.00038  dbSNP: rs144614070
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468758 SCV000547473 uncertain significance Fanconi anemia 2023-12-26 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 156 of the SLX4 protein (p.Thr156Lys). This variant is present in population databases (rs144614070, 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: 407933). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV000501642 SCV000597150 likely benign not specified 2016-07-07 criteria provided, single submitter clinical testing
Mendelics RCV000989505 SCV001139918 uncertain significance Fanconi anemia complementation group A 2019-05-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000468758 SCV002529364 uncertain significance Fanconi anemia 2022-02-01 criteria provided, single submitter curation

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