ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.1019C>A (p.Pro340His) (rs386833861)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000049830 SCV001164372 uncertain significance Finnish congenital nephrotic syndrome 2018-12-03 criteria provided, single submitter research The homozygous p.Pro340His variant in NPHS1 was identified by our study in one individual with nephrotic syndrome. The p.Pro340His variant in NPHS1 has not been previously reported in individuals with nephrotic syndrome and has been identified in 0.009746% (3/30782) of South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs386833861). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Pro340His variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3 (Richards 2015).
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049830 SCV000082239 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.