ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.139del (p.Ala47fs) (rs386833882)

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
Counsyl RCV000049853 SCV000220244 likely pathogenic Finnish congenital nephrotic syndrome 2014-04-15 criteria provided, single submitter literature only
Integrated Genetics/Laboratory Corporation of America RCV000049853 SCV000698497 pathogenic Finnish congenital nephrotic syndrome 2016-07-21 criteria provided, single submitter clinical testing Variant summary: The NPHS1 c.139delG (p.Ala47Profs) variant results in a premature termination codon, predicted to cause a truncated or absent NPHS1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant of interest was found in the large, broad control population, ExAC, with an allele frequency of 2/114206 (1/57103), which does not exceed the estimated maximal expected allele frequency for a pathogenic NPHS1 variant of 1/298. Multiple publications cite the variant in affected individuals as homozygotes and compound heterozygotes. In addition, a reputable clinical laboratory cites the variant as "likely pathogenic." Therefore, the variant of interest has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049853 SCV000082262 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.