ClinVar Miner

Submissions for variant NM_002906.4(RDX):c.1501T>C (p.Ser501Pro)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003120237 SCV003800178 uncertain significance Autosomal recessive nonsyndromic hearing loss 24 2022-07-15 criteria provided, single submitter clinical testing The RDX c.1501T>C; p.Ser501Pro variant (rs889509891), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The serine at codon 501 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.175). However, given the lack of clinical and functional data, the significance of the p.Ser501Pro variant is uncertain at this time.

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.