ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.1481del (p.Ser494fs) (rs386833883)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804539 SCV000944453 pathogenic not provided 2018-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser494Cysfs*55) in the NPHS1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in as homozygous and in combination with another NPHS1 variant in several families and in an unrelated individual affected with nephrotic syndrome (PMID: 10577936, 18614772). ClinVar contains an entry for this variant (Variation ID: 56441). Loss-of-function variants in NPHS1 are known to be pathogenic (PMID: 11317351, 11854170, 12039988). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000049854 SCV000027469 pathogenic Finnish congenital nephrotic syndrome 1999-12-01 no assertion criteria provided literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049854 SCV000082263 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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