ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1574G>A (p.Arg525His)

gnomAD frequency: 0.00002  dbSNP: rs756369289
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223239 SCV001395378 uncertain significance Fanconi anemia 2022-03-29 criteria provided, single submitter clinical testing This variant is present in population databases (rs756369289, gnomAD 0.009%). 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. ClinVar contains an entry for this variant (Variation ID: 951347). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 525 of the SLX4 protein (p.Arg525His).
Fulgent Genetics, Fulgent Genetics RCV002504285 SCV002816397 uncertain significance Fanconi anemia complementation group P 2021-10-11 criteria provided, single submitter clinical testing

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