ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3368C>A (p.Ser1123Tyr) (rs144647122)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501939 SCV000597167 uncertain significance not specified 2017-04-05 criteria provided, single submitter clinical testing
Invitae RCV000539205 SCV000626420 uncertain significance Fanconi anemia 2019-12-11 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 1123 of the SLX4 protein (p.Ser1123Tyr). The serine residue is moderately conserved and there is a large physicochemical difference between serine and tyrosine. This variant is present in population databases (rs144647122, ExAC 0.05%). This variant has been observed in an individual affected with breast cancer (PMID: 23840564), and has also been reported in an individual with oropharynx cancer (PMID: 28678401). However, in this individual, who did not have any Fanconi anemia related phenotypic features, a whole gene deletion of SLX4 was also found (PMID: 28678401). ClinVar contains an entry for this variant (Variation ID: 436793). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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.
Leiden Open Variation Database RCV000501939 SCV001364661 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.

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