ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.1701C>A (p.Cys567Ter) (rs386833887)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049858 SCV000220423 likely pathogenic Finnish congenital nephrotic syndrome 2014-06-18 criteria provided, single submitter literature only
Athena Diagnostics Inc RCV000992445 SCV001144760 pathogenic not provided 2019-02-22 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity. Occurs in three or more cases with a recessive pathogenic variant in the same gene.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049858 SCV000082267 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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