Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000174180 | SCV000225438 | pathogenic | not provided | 2014-09-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001239221 | SCV001412076 | pathogenic | Nephronophthisis | 2019-11-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg577*) in the NPHP3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with nephronophthisis (PMID: 18371931). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2636). Loss-of-function variants in NPHP3 are known to be pathogenic (PMID: 18371931, 23559409). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000002755 | SCV000022913 | pathogenic | Meckel syndrome type 7 | 2008-04-01 | no assertion criteria provided | literature only |