Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001197495 | SCV001368261 | pathogenic | Senior-Loken syndrome 4 | 2019-09-23 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS1. |
Genome Diagnostics Laboratory, |
RCV002294447 | SCV002587735 | likely pathogenic | Kidney disorder | 2020-08-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003117841 | SCV003787552 | pathogenic | Nephronophthisis | 2022-03-11 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 931168). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. This variant is present in population databases (rs780905861, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Trp4*) in the NPHP4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPHP4 are known to be pathogenic (PMID: 12205563, 23559409). For these reasons, this variant has been classified as Pathogenic. |