ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2557G>C (p.Glu853Gln)

gnomAD frequency: 0.00001  dbSNP: rs1465800756
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053775 SCV001218053 uncertain significance Fanconi anemia 2023-09-13 criteria provided, single submitter clinical testing 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: 849746). 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. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 853 of the SLX4 protein (p.Glu853Gln).

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