Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001059818 | SCV001224466 | pathogenic | Nephronophthisis | 2022-11-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the NPHP1 protein in which other variant(s) (p.Ser718*) have been determined to be pathogenic (PMID: 23559409). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 854715). This premature translational stop signal has been observed in individual(s) with clinical features of NPHP1-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp685*) in the NPHP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 49 amino acid(s) of the NPHP1 protein. |
| Fulgent Genetics, |
RCV002497439 | SCV002810339 | likely pathogenic | Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 | 2022-04-11 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003467802 | SCV004191347 | likely pathogenic | Joubert syndrome with renal defect | 2023-03-18 | criteria provided, single submitter | clinical testing |