ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2114G>A (p.Arg705His)

gnomAD frequency: 0.00001  dbSNP: rs139548649
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
Eurofins Ntd Llc (ga) RCV000596740 SCV000705526 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing
Invitae RCV001867958 SCV002274279 uncertain significance Nephronophthisis 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 705 of the NPHP3 protein (p.Arg705His). This variant is present in population databases (rs139548649, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 499828). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NPHP3 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002531053 SCV003587474 uncertain significance Inborn genetic diseases 2021-11-09 criteria provided, single submitter clinical testing The c.2114G>A (p.R705H) alteration is located in exon 15 (coding exon 15) of the NPHP3 gene. This alteration results from a G to A substitution at nucleotide position 2114, causing the arginine (R) at amino acid position 705 to be replaced by a histidine (H). 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.