ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.2172_2173del (p.Glu725fs)

dbSNP: rs386833906
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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 RCV001853053 SCV002235638 pathogenic not provided 2021-02-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu725Glyfs*25) 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 not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with nephrotic syndrome (PMID: 16703378). ClinVar contains an entry for this variant (Variation ID: 56466). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000049879 SCV004191494 pathogenic Finnish congenital nephrotic syndrome 2022-11-08 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049879 SCV000082288 likely pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission from probable-pathogenic to Likely pathogenic.
Department of Traditional Chinese Medicine, Fujian Provincial Hospital RCV000049879 SCV002599093 pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided research

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