Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Victorian Clinical Genetics Services, |
RCV002251404 | SCV001427103 | likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1 | 2018-05-16 | criteria provided, single submitter | clinical testing | A heterozygous missense variant, NM_003361.3(UMOD):c.150C>G, has been identified in exon 3 of 11 in the UMOD gene. The variant is predicted to result in a major amino acid change from a cysteine to a tryptophan at position 50 of the protein, NP_003352.2(UMOD):p.(Cys50Trp). The cysteine residue at this position has high conservation (100 vertebrates, UCSC), and is located within the EGF_3 functional domain. In silico predictions for this variant are consistently pathogenic (Polyphen, SIFT, CADD, Mutation Taster). The variant is absent in population databases (gnomAD, dbSNP, 1000G) and has not been previously reported in clinical cases. Parental testing has indicated this variant is due to a de novo event. Based on the information available at the time of curation, this variant has been classified as LIKELY PATHOGENIC. NB: This variant has been reclassified due to de novo status. |