Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595142 | SCV000700632 | pathogenic | not provided | 2013-08-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000812054 | SCV000952356 | pathogenic | Nephronophthisis | 2019-03-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NPHP4 are known to be pathogenic (PMID: 23559409). This variant has not been reported in the literature in individuals with NPHP4-related disease. ClinVar contains an entry for this variant (Variation ID: 95680). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His982Argfs*26) in the NPHP4 gene. It is expected to result in an absent or disrupted protein product. |