Submissions for variant NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys)

gnomAD frequency: 0.00067  dbSNP: rs28939695

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174106	SCV000225346	benign	not specified	2015-02-26	criteria provided, single submitter	clinical testing
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	RCV000490526	SCV000267423	uncertain significance	Finnish congenital nephrotic syndrome	2016-03-18	criteria provided, single submitter	reference population
Counsyl	RCV000490526	SCV000800799	likely benign	Finnish congenital nephrotic syndrome	2017-12-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000879499	SCV001022535	benign	not provided	2025-01-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001123648	SCV001282501	benign	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000879499	SCV001988754	benign	not provided	2021-10-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20981092, 27019444, 29259860, 28476686, 29382012, 12631336, 24142548, 10652016, 11317351, 27882743, 26248470, 31216994, 31456999, 31180159, 31308032, 31788464)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294056	SCV002587416	uncertain significance	Focal segmental glomerulosclerosis	2020-08-07	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV000157397	SCV000207136	likely benign	Proteinuria	2014-09-17	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000490526	SCV001454156	benign	Finnish congenital nephrotic syndrome	2020-05-04	no assertion criteria provided	clinical testing