Submissions for variant NM_004646.4(NPHS1):c.3173C>T (p.Ser1058Leu)

gnomAD frequency: 0.00031  dbSNP: rs201503587

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001125550	SCV001284635	uncertain significance	Congenital nephrotic syndrome	2017-04-28	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002053898	SCV002332348	likely benign	not provided	2024-03-16	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV000157402	SCV000207141	uncertain significance	Familial idiopathic steroid-resistant nephrotic syndrome	2014-11-27	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927520	SCV004738963	likely benign	NPHS1-related disorder	2022-10-19	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).