ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.3520C>T (p.His1174Tyr)

gnomAD frequency: 0.00161  dbSNP: rs115489112
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000880449 SCV001023545 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000880449 SCV001144763 likely benign not provided 2019-05-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001124537 SCV001283510 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000880449 SCV001779853 likely benign not provided 2020-03-11 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Observed in the homozygous state in a clinically unaffected adult relative of an individual referred for genetic testing at GeneDx; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24948143)
PreventionGenetics, part of Exact Sciences RCV003967977 SCV004782551 likely benign NPHS1-related disorder 2020-12-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.