ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.468C>G (p.Tyr156Ter) (rs386833943)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049918 SCV000485301 pathogenic Finnish congenital nephrotic syndrome 2015-11-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000049918 SCV001339177 pathogenic Finnish congenital nephrotic syndrome 2020-03-20 criteria provided, single submitter clinical testing Variant summary: NPHS1 c.468C>G (p.Tyr156X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251374 control chromosomes (gnomAD). c.468C>G has been reported in the literature in individuals affected with Nephrotic Syndrome, Type 1 (e.g. Bullich_2015, Beltcheva_2001, Hinkes_2007, Philippe_2008). These data indicate that the variant is likely to be associated with disease. One ClinVar submitter (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049918 SCV000082327 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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