ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2797C>T (p.Arg933Trp)

gnomAD frequency: 0.00015  dbSNP: rs778505641
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) RCV000596806 SCV000705417 uncertain significance not provided 2018-08-15 criteria provided, single submitter clinical testing
Invitae RCV001046811 SCV001210728 uncertain significance Nephronophthisis 2022-11-07 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 499758). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 933 of the NPHP4 protein (p.Arg933Trp).
Fulgent Genetics, Fulgent Genetics RCV002491198 SCV002801335 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2022-02-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003392430 SCV004120113 uncertain significance NPHP4-related condition 2022-08-26 criteria provided, single submitter clinical testing The NPHP4 c.2797C>T variant is predicted to result in the amino acid substitution p.Arg933Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.035% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-5937173-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.