ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2675C>T (p.Ala892Val)

dbSNP: rs1368217140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522034 SCV000620889 uncertain significance not provided 2017-09-20 criteria provided, single submitter clinical testing The A892V variant in the SLX4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A892V variant is not observed in large population cohorts (Lek et al., 2016). The A892V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret A892V as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001314260 SCV001504786 uncertain significance Fanconi anemia 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 892 of the SLX4 protein (p.Ala892Val). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 452112). 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 tolerated. 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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