ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala)

gnomAD frequency: 0.00041  dbSNP: rs114615449
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001094540 SCV000411569 uncertain significance Congenital nephrotic syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000879498 SCV001022534 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000354078 SCV001141050 uncertain significance Finnish congenital nephrotic syndrome 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000354078 SCV001653478 likely benign Finnish congenital nephrotic syndrome 2021-05-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294058 SCV002587415 uncertain significance Focal segmental glomerulosclerosis 2020-08-07 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157400 SCV000207139 uncertain significance Proteinuria 2014-09-17 no assertion criteria provided clinical testing
Natera, Inc. RCV000354078 SCV001464209 benign Finnish congenital nephrotic syndrome 2020-01-08 no assertion criteria provided clinical testing

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