ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu)

gnomAD frequency: 0.00005  dbSNP: rs773368924
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
Eurofins Ntd Llc (ga) RCV000177474 SCV000229335 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765243 SCV000896490 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000822808 SCV000963625 uncertain significance Nephronophthisis 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1382 of the NPHP4 protein (p.Gly1382Glu). This variant is present in population databases (rs773368924, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 196631). 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 NPHP4 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 RCV003258684 SCV003953772 uncertain significance Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing The c.4145G>A (p.G1382E) alteration is located in exon 30 (coding exon 29) of the NPHP4 gene. This alteration results from a G to A substitution at nucleotide position 4145, causing the glycine (G) at amino acid position 1382 to be replaced by a glutamic acid (E). 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.