ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn)

dbSNP: rs386833879
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049850 SCV000485629 likely pathogenic Finnish congenital nephrotic syndrome 2016-01-24 criteria provided, single submitter clinical testing
Invitae RCV002513690 SCV003443151 uncertain significance not provided 2022-08-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 446 of the NPHS1 protein (p.Ile446Asn). This variant is present in population databases (rs386833879, gnomAD 0.003%). This missense change has been observed in individual(s) with nephrotic syndrome (PMID: 11854170, 20507940, 26560236). ClinVar contains an entry for this variant (Variation ID: 56437). 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 expected to disrupt NPHS1 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.
Vasylyeva lab, Texas Tech University Health Sciences Center RCV000049850 SCV004123151 likely pathogenic Finnish congenital nephrotic syndrome 2016-01-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV000049850 SCV004191400 likely pathogenic Finnish congenital nephrotic syndrome 2023-09-22 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049850 SCV000082259 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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.