Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
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. |