ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle) (rs1555763603)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712434 SCV000842927 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000049931 SCV000917907 pathogenic Finnish congenital nephrotic syndrome 2018-04-11 criteria provided, single submitter clinical testing Variant summary: NPHS1 c.614_621delinsTT (p.Thr205_Arg207delinsIle) results in an in-frame deletion-insertion that is predicted to delete 3 amino acids from the protein (i.e. Thr-Pro-Arg) and also cause the insertion of one amino acid (i.e. an Ile). The variant was absent in 246058 control chromosomes. c.614_621delinsTT has been reported in the literature in multiple individuals affected with Nephrotic Syndrome Type 1, in several cases in a homozygous form (Lenkkeri 1999, Hinkes 2007, Machuca 2010, Buscher 2010). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049931 SCV000082340 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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