ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2005C>T (p.Arg669Cys)

gnomAD frequency: 0.00007  dbSNP: rs375524355
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502632 SCV000597142 uncertain significance not specified 2016-10-14 criteria provided, single submitter clinical testing
Invitae RCV000701732 SCV000830545 uncertain significance Fanconi anemia 2022-10-13 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 669 of the SLX4 protein (p.Arg669Cys). This variant is present in population databases (rs375524355, 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: 436783). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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