ClinVar Miner

Submissions for variant NM_014625.4(NPHS2):c.709G>C (p.Glu237Gln)

gnomAD frequency: 0.00040  dbSNP: rs146906190
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732875 SCV000860872 likely benign not specified 2018-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000901615 SCV001045994 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001101696 SCV001258325 uncertain significance Nephrotic syndrome, type 2 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 RCV000901615 SCV002504248 likely benign not provided 2020-03-10 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294374 SCV002587335 likely benign Focal segmental glomerulosclerosis 2021-10-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276836 SCV001463419 benign Steroid-resistant nephrotic syndrome 2020-01-12 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003938120 SCV004752253 likely benign NPHS2-related disorder 2022-03-03 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).

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