ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.80A>T (p.Asp27Val)

dbSNP: rs1567178445
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701687 SCV000830499 uncertain significance Fanconi anemia 2018-02-14 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 27 of the SLX4 protein (p.Asp27Val). The aspartic acid residue is weakly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLX4-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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