Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001197494 | SCV001368260 | pathogenic | NPHP3-related Meckel-like syndrome | 2019-09-23 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS1. |
Invitae | RCV001389821 | SCV001591309 | pathogenic | Nephronophthisis | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu461*) in the NPHP3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPHP3 are known to be pathogenic (PMID: 18371931, 23559409). This variant is present in population databases (rs119456961, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with nephronophthisis (PMID: 12872122, 21866095). ClinVar contains an entry for this variant (Variation ID: 2634). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002496236 | SCV002778639 | pathogenic | Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome | 2022-03-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000681680 | SCV004034548 | pathogenic | not provided | 2023-03-06 | criteria provided, single submitter | clinical testing | Nonsense 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 21866095, 30586318, 36090483, 12872122) |
OMIM | RCV000002752 | SCV000022910 | pathogenic | Nephronophthisis 3 | 2003-08-01 | no assertion criteria provided | literature only | |
Gharavi Laboratory, |
RCV000681680 | SCV000809127 | pathogenic | not provided | 2018-09-16 | no assertion criteria provided | research |