ClinVar Miner

Submissions for variant NM_000379.4(XDH):c.3847C>T (p.Arg1283Ter) (rs751921838)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000333311 SCV000430017 uncertain significance Deficiency of xanthine oxidase 2017-04-28 criteria provided, single submitter clinical testing The XDH c. 3847C>T (p.Arg1283Ter) variant is a stop-gained variant which has been reported in one study in which it is found in one individual with xanthinuria in a homozygous state (Tanaka et al. 2015). The individual had elevated xanthine levels in the plasma and urine and edema of the right leg. Control data are unavailable for this variant, which is reported at a frequency of 0.00009 in the Latino population of the Exome Aggregation Consortium, but this is based on one allele in a region of good sequence coverage so the variant is presumed to be rare. Due to the potential impact of stop-gained variants and the limited evidence available, the p.Arg1283Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for xanthinuria. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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