ClinVar Miner

Submissions for variant NM_000379.4(XDH):c.3440C>G (p.Ser1147Ter) (rs1553411468)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000609125 SCV000713351 likely pathogenic Deficiency of xanthine oxidase 2017-07-27 criteria provided, single submitter clinical testing The p.Ser1147X (NM_000379.3 c.3440C>G) variant in XDH has not been previously re ported in the literature and was absent from large population studies. This nons ense variant leads to a premature termination codon at position 1147, which is p redicted to lead to a truncated or absent protein. Biallelic loss of function of the XDH gene has been associated with hereditary xanthinuria type I. In summary , although additional studies are required to fully establish a null effect on t he protein, the p.Ser1147X variant in the XDH gene is likely pathogenic for here ditary xanthinuria type I in an autosomal recessive manner based on its predicte d impact on the protein.

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