ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.1531C>T (p.Arg511Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002601230 SCV002957774 pathogenic not provided 2022-08-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg511*) in the NPHS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPHS1 are known to be pathogenic (PMID: 11317351, 11854170, 12039988). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with NPHS1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464570 SCV004191483 likely pathogenic Finnish congenital nephrotic syndrome 2023-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003464570 SCV005654318 pathogenic Finnish congenital nephrotic syndrome 2024-03-07 criteria provided, single submitter clinical testing

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