Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001050356 | SCV001214458 | pathogenic | Nephronophthisis | 2023-01-22 | 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: 1833). This premature translational stop signal has been observed in individual(s) with Senior-Loken syndrome or Leber congenital amaurosis (PMID: 15723066, 20881296). This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg275Serfs*6) in the IQCB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IQCB1 are known to be pathogenic (PMID: 15723066, 21901789, 23559409, 28041643). |
OMIM | RCV000001907 | SCV000022065 | pathogenic | Senior-Loken syndrome 5 | 2005-03-01 | no assertion criteria provided | literature only |