Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003586262 | SCV004291233 | pathogenic | Nephronophthisis | 2023-12-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser251Leufs*6) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with NPHP4-related conditions (PMID: 23559409). ClinVar contains an entry for this variant (Variation ID: 829848). For these reasons, this variant has been classified as Pathogenic. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV001029787 | SCV001192566 | pathogenic | Nephronophthisis 4 | 2019-05-28 | no assertion criteria provided | clinical testing |