ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2381A>T (p.Asp794Val) (rs201622632)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557806 SCV000626410 uncertain significance Fanconi anemia 2019-06-03 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 794 of the SLX4 protein (p.Asp794Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is present in population databases (rs201622632, ExAC 0.1%). This variant has been reported in an individual affected with breast cancer (PMID: 26824983). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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