Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001244264 | SCV001417472 | pathogenic | Nephronophthisis | 2022-12-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 562366). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro630Argfs*69) 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). |
Gene |
RCV000681825 | SCV001772172 | likely pathogenic | not provided | 2020-04-17 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31589614) |
Fulgent Genetics, |
RCV002493130 | SCV002780690 | pathogenic | Nephronophthisis 4; Senior-Loken syndrome 4 | 2022-03-24 | criteria provided, single submitter | clinical testing | |
Gharavi Laboratory, |
RCV000681825 | SCV000809300 | likely pathogenic | not provided | 2018-09-16 | no assertion criteria provided | research |