ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.401C>T (p.Ala134Val)

gnomAD frequency: 0.00002  dbSNP: rs759574554
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222806 SCV001394923 uncertain significance Fanconi anemia 2022-06-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs759574554, gnomAD 0.004%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 134 of the SLX4 protein (p.Ala134Val). ClinVar contains an entry for this variant (Variation ID: 950980). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.
Genetic Services Laboratory, University of Chicago RCV001819921 SCV002067165 uncertain significance not specified 2018-06-12 criteria provided, single submitter clinical testing

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