Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001328313 | SCV002208019 | pathogenic | Nephronophthisis | 2022-02-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1256*) 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 present in population databases (rs775612958, gnomAD 0.002%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 829828). This premature translational stop signal has been observed in individual(s) with NPHP4-related conditions (PMID: 26489029, 31810733). It has also been observed to segregate with disease in related individuals. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV001029764 | SCV001192542 | likely pathogenic | Nephronophthisis 4 | 2019-04-05 | no assertion criteria provided | clinical testing | |
Sydney Genome Diagnostics, |
RCV001328313 | SCV001449366 | pathogenic | Nephronophthisis | 2014-05-27 | no assertion criteria provided | clinical testing | This patient is heterozygous for a novel pathogenic variant, c.3766C>T, in the NPHP4 gene. This variant creates a premature stop codon p.(Gln1256*), and may result in a null allele due to nonsense-mediated mRNA decay. This variant is considered to be pathogenic. |