ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3184C>T (p.Arg1062Cys)

gnomAD frequency: 0.00005  dbSNP: rs569194362
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000809540 SCV000949693 uncertain significance Fanconi anemia 2023-09-10 criteria provided, single submitter clinical testing 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 cysteine, which is neutral and slightly polar, at codon 1062 of the SLX4 protein (p.Arg1062Cys). This variant is present in population databases (rs569194362, gnomAD 0.07%). ClinVar contains an entry for this variant (Variation ID: 653725). 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. 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.
Sema4, Sema4 RCV000809540 SCV002529321 uncertain significance Fanconi anemia 2021-11-11 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002501098 SCV002784812 uncertain significance Fanconi anemia complementation group P 2022-03-10 criteria provided, single submitter clinical testing

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