ClinVar Miner

Submissions for variant NM_000379.4(XDH):c.2488C>T (p.Arg830Cys)

gnomAD frequency: 0.00001  dbSNP: rs781137664
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000374223 SCV000430035 uncertain significance Hereditary xanthinuria type 1 2017-04-27 criteria provided, single submitter clinical testing The XDH c.2488C>T (p.Arg830Cys) variant has been reported in one study, in one individual with xanthinuria in a compound heterozygous state with another missense variant, and in the proband's unaffected father in a heterozygous state (Amin et al. 2015). The p.Arg830Cys variant is reported at a frequency of 0.000023 in the European (non-Finnish) population of the Genome Aggregation Database. The evidence for this variant is limited. The p.Arg830Cys 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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