ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.116C>A (p.Ala39Asp)

dbSNP: rs762973149
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000714152 SCV000844835 uncertain significance not provided 2018-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000714152 SCV001815074 uncertain significance not provided 2019-03-14 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002499298 SCV002812084 uncertain significance Familial juvenile hyperuricemic nephropathy type 1 2021-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026832 SCV004977862 uncertain significance Inborn genetic diseases 2024-02-08 criteria provided, single submitter clinical testing The c.116C>A (p.A39D) alteration is located in exon 3 (coding exon 2) of the UMOD gene. This alteration results from a C to A substitution at nucleotide position 116, causing the alanine (A) at amino acid position 39 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.