Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000692576 | SCV000820406 | pathogenic | Nephronophthisis | 2022-08-09 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 571434). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln986Profs*24) in the NPHP3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPHP3 are known to be pathogenic (PMID: 18371931, 23559409). |