ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.1117C>T (p.Arg373Ter)

dbSNP: rs753535989
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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 RCV001386347 SCV001586538 pathogenic not provided 2023-08-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg373*) 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). This variant is present in population databases (rs753535989, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with NPHS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1073364). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002499804 SCV002806784 likely pathogenic Finnish congenital nephrotic syndrome 2022-05-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV002499804 SCV005053645 pathogenic Finnish congenital nephrotic syndrome 2024-03-13 criteria provided, single submitter clinical testing

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