ClinVar Miner

Submissions for variant NM_004252.5(NHERF1):c.85C>A (p.His29Asn)

gnomAD frequency: 0.00002  dbSNP: rs765897805
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002173965 SCV002460967 likely benign not provided 2021-06-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500343 SCV002811163 likely benign Hypophosphatemic nephrolithiasis/osteoporosis 2 2021-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004651959 SCV005143880 uncertain significance Inborn genetic diseases 2024-03-20 criteria provided, single submitter clinical testing The c.85C>A (p.H29N) alteration is located in exon 1 (coding exon 1) of the SLC9A3R1 gene. This alteration results from a C to A substitution at nucleotide position 85, causing the histidine (H) at amino acid position 29 to be replaced by an asparagine (N). 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.