Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000049862 | SCV000788512 | pathogenic | Finnish congenital nephrotic syndrome | 2017-03-15 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV003546467 | SCV004270487 | pathogenic | not provided | 2023-11-05 | criteria provided, single submitter | clinical testing | This variant results in the deletion of part of exon 14 (c.1758-8_1785del) of the NPHS1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NPHS1 are known to be pathogenic (PMID: 11317351, 11854170, 12039988). This variant is present in population databases (rs772139243, gnomAD 0.003%). This variant has been observed in individuals with nephrotic syndrome (PMID: 20172850, 20507940). This variant is also known as c.1759-15_1778del or c.1758 –8_1784del36. ClinVar contains an entry for this variant (Variation ID: 56449). For these reasons, this variant has been classified as Pathogenic. |
| Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049862 | SCV000082271 | probable-pathogenic | Finnish congenital nephrotic syndrome | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |