ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.692C>A (p.Ser231Ter)

gnomAD frequency: 0.00001  dbSNP: rs386833958
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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 RCV001853060 SCV002169165 pathogenic not provided 2021-04-22 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser231*) 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 has been observed in individual(s) with congenital nephrotic syndrome (PMID: 11317351). ClinVar contains an entry for this variant (Variation ID: 56520). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000049933 SCV005053659 pathogenic Finnish congenital nephrotic syndrome 2024-02-02 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049933 SCV000082342 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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