ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.1620G>C (p.Ala540=)

gnomAD frequency: 0.00042  dbSNP: rs375861433
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000894576 SCV001038567 likely benign not provided 2024-06-23 criteria provided, single submitter clinical testing
GeneDx RCV000894576 SCV003840561 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001277292 SCV001464214 likely benign Finnish congenital nephrotic syndrome 2020-06-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003950441 SCV004764816 likely benign NPHS1-related disorder 2019-10-21 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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