ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5440C>T (p.Arg1814Cys)

dbSNP: rs767720336
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001306838 SCV001496222 uncertain significance Fanconi anemia 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1814 of the SLX4 protein (p.Arg1814Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs767720336, ExAC 0.009%). This missense change has been observed in individual(s) with breast cancer (PMID: 22911665, 23840564). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change does not substantially affect SLX4 function (PMID: 22911665, 23840564). 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.
Fulgent Genetics, Fulgent Genetics RCV002484060 SCV002790238 uncertain significance Fanconi anemia complementation group P 2021-12-02 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194869 SCV001364706 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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