ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu)

gnomAD frequency: 0.00044  dbSNP: rs114849139
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490421 SCV000267422 uncertain significance Finnish congenital nephrotic syndrome 2016-03-18 criteria provided, single submitter reference population
PreventionGenetics, part of Exact Sciences RCV000245697 SCV000310569 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000245697 SCV000341263 benign not specified 2016-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000906876 SCV001051541 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001127647 SCV001286983 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.
Pars Genome Lab RCV000490421 SCV001652846 uncertain significance Finnish congenital nephrotic syndrome 2021-05-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000906876 SCV004145515 benign not provided 2025-03-01 criteria provided, single submitter clinical testing NPHS1: PM5, BP4, BS1, BS2
Counsyl RCV000490421 SCV000796330 likely benign Finnish congenital nephrotic syndrome 2017-12-15 no assertion criteria provided clinical testing This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.
Natera, Inc. RCV000490421 SCV001465583 benign Finnish congenital nephrotic syndrome 2020-10-05 no assertion criteria provided clinical testing

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