Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000609125 | SCV000713351 | likely pathogenic | Hereditary xanthinuria type 1 | 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. |