ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.217G>C (p.Glu73Gln)

gnomAD frequency: 0.00002  dbSNP: rs139829211
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757761 SCV002005954 uncertain significance not provided 2021-04-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001868694 SCV002137830 uncertain significance Fanconi anemia 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 73 of the SLX4 protein (p.Glu73Gln). This variant is present in population databases (rs139829211, gnomAD 0.007%). 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: 1316945). 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.

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