ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.1096A>C (p.Ser366Arg) (rs386833864)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065065 SCV001230004 pathogenic not provided 2019-11-13 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 366 of the NPHS1 protein (p.Ser366Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with NPHS1-related conditions (PMID: 9915943, 20172850, 24371179, 18709391, 24397250). ClinVar contains an entry for this variant (Variation ID: 56420). This variant has been reported to affect NPHS1 protein function (PMID: 24303155, 11726550, 18614772). For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196902 SCV001367536 pathogenic Rare genetic syndrome 2020-03-26 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS3,PS4_MOD,PM3,PP3. This variant was detected in heterozygous state.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196984 SCV001367619 pathogenic Nephrotic syndrome 2020-02-18 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PS4_MOD,PP3,PP4. This variant was detected in heterozygous state.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049833 SCV000082242 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.