ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.2227C>T (p.Arg743Cys) (rs386833909)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049882 SCV000485923 likely pathogenic Finnish congenital nephrotic syndrome 2016-03-03 criteria provided, single submitter clinical testing
Invitae RCV000797708 SCV000937283 likely pathogenic not provided 2018-12-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 743 of the NPHS1 protein (p.Arg743Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs386833909, ExAC 0.01%). This variant has been observed in several individuals affected with congenital nephrotic syndrome (PMID: 9915943, 10972661, 20172850, 20507940, 24902943, 28117080). ClinVar contains an entry for this variant (Variation ID: 56469). This variant has been reported to have conflicting or insufficient data to determine the effect on NPHS1 protein function (PMID: 11726550, 24142548, 24303155). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049882 SCV000082291 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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