ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.1099C>T (p.Arg367Cys) (rs386833865)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000049834 SCV000919898 pathogenic Finnish congenital nephrotic syndrome 2017-10-09 criteria provided, single submitter clinical testing Variant summary: The NPHS1 c.1099C>T (p.Arg367Cys) variant involves the alteration of a conserved nucleotide. 4/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 10/246176 control chromosomes at a frequency of 0.0000406, which does not exceed the estimated maximal expected allele frequency of a pathogenic NPHS1 variant (0.0033541). The variant has been reported in affected individuals in the literature, and has been described as an Indian founder mutation (Sadowski_2015). In in vitro studies, the variant was shown to result in the absence of cell-surface localization (Liu_2001). In addition, one clinical diagnostic laboratory classified this variant as likely pathogenic. Taken together, this variant is classified as pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049834 SCV000082243 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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