ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2236G>A (p.Glu746Lys)

gnomAD frequency: 0.00001  dbSNP: rs758785487
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001860564 SCV002133301 uncertain significance Fanconi anemia 2023-08-24 criteria provided, single submitter clinical testing 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 813709). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs758785487, gnomAD 0.02%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 746 of the SLX4 protein (p.Glu746Lys).
Sema4, Sema4 RCV001860564 SCV002529294 uncertain significance Fanconi anemia 2021-11-03 criteria provided, single submitter curation
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252938 SCV001164081 uncertain significance Microcephaly no assertion criteria provided research

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