ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu)

gnomAD frequency: 0.00051  dbSNP: rs149598144
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV002060249 SCV000614338 uncertain significance not provided 2021-06-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001127721 SCV001287064 uncertain significance Congenital nephrotic syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002060249 SCV002367775 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001277293 SCV005654315 likely benign Finnish congenital nephrotic syndrome 2024-02-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277293 SCV001464215 uncertain significance Finnish congenital nephrotic syndrome 2019-12-05 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003942697 SCV004771761 uncertain significance NPHS1-related disorder 2024-02-22 no assertion criteria provided clinical testing The NPHS1 c.1619C>A variant is predicted to result in the amino acid substitution p.Ala540Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.068% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Although we suspect that this variant may be benign, 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.