Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594142 | SCV000703440 | pathogenic | not provided | 2016-11-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001381479 | SCV001579890 | pathogenic | Nephronophthisis | 2022-10-18 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with a nephronophthisis-related ciliopathy (PMID: 23559409). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 498434). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln671*) 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). |
Fulgent Genetics, |
RCV002497256 | SCV002800855 | pathogenic | Nephronophthisis 4; Senior-Loken syndrome 4 | 2022-05-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900316 | SCV004718947 | pathogenic | NPHP4-related condition | 2024-02-22 | criteria provided, single submitter | clinical testing | The NPHP4 c.2011C>T variant is predicted to result in premature protein termination (p.Gln671*). This variant was reported in individuals with autosomal recessive NPHP4-related disorders (Halbritter et al. 2013. PubMed ID: 23559409; Table S2, König et al. 2022. PubMed ID: 36090483). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in NPHP4 are expected to be pathogenic. This variant is interpreted as pathogenic. |