Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000049926 | SCV000487146 | pathogenic | Finnish congenital nephrotic syndrome | 2016-10-17 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000049926 | SCV001442685 | pathogenic | Finnish congenital nephrotic syndrome | 2020-10-04 | criteria provided, single submitter | clinical testing | Variant summary: NPHS1 c.532C>T (p.Gln178X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 1.2e-05 in 251468 control chromosomes. c.532C>T has been reported in the literature in individuals affected with Congenital/Steroid resistant Nephrotic Syndrome and subsequently cited by others (example, Beltcheva_2001, Sadowski_2015, Machuca_2010). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Labcorp Genetics |
RCV001853059 | SCV002125820 | pathogenic | not provided | 2024-02-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln178*) in the NPHS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPHS1 are known to be pathogenic (PMID: 11317351, 11854170, 12039988). This variant is present in population databases (rs386833951, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with clinical features of nephrotic syndrome (PMID: 11317351). ClinVar contains an entry for this variant (Variation ID: 56513). For these reasons, this variant has been classified as Pathogenic. |
| Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049926 | SCV000082335 | probable-pathogenic | Finnish congenital nephrotic syndrome | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. | |
| Natera, |
RCV000049926 | SCV002087107 | pathogenic | Finnish congenital nephrotic syndrome | 2020-11-25 | no assertion criteria provided | clinical testing |