ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) (rs386833912)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049886 SCV000220399 likely pathogenic Finnish congenital nephrotic syndrome 2014-06-12 criteria provided, single submitter literature only
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000049886 SCV000803816 pathogenic Finnish congenital nephrotic syndrome 2016-06-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712426 SCV000842919 pathogenic not provided 2014-08-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000049886 SCV000915827 pathogenic Finnish congenital nephrotic syndrome 2018-08-22 criteria provided, single submitter clinical testing The NPHS1 c.2417C>A (p.Ala806Asp) variant has been reported in at least five studies and is found in a homozygous state in three probands and in a compound heterozygous state in two probands with congenital Finnish nephrosis (Lenkerri et al. 1999; Santin et al. 2009; Santin et al. 2011; Lovric et al. 2014; Machuca et al. 2014; Berody et al. 2018). The p.Ala806Asp variant was absent from 30 controls and is reported at a frequency of 0.00002 in the European (non-Finnish) population of the Exome Aggregation Consortium but this is based on one allele so the variant is presumed to be rare. Immunostaining of cells with wildtype NPHS1 demonstrated expression at the plasma membrane, whereas in cells containing the p.Ala806Asp variant there was no detectable surface staining observed (Liu et al. 2001). Based on the evidence, the p.Ala806Asp variant is classified as pathogenic for congenital nephrotic syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049886 SCV000082295 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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