ClinVar Miner

Submissions for variant NM_000379.4(XDH):c.1820G>A (p.Arg607Gln) (rs45442092)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644555 SCV000766255 uncertain significance Xanthinuria type 2 2018-03-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 607 of the XDH protein (p.Arg607Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs45442092, ExAC 0.3%). This variant has not been reported in the literature in individuals with XDH-related disease. This variant has been identified by exome analysis in an individual with Takotsubo cardiomyopathy (PMID: 25132214). Experimental studies have shown that this missense change has a mild effect on XDH enzymatic activity in vitro (PMID: 18300946). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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