Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000658866 | SCV000780664 | likely pathogenic | not provided | 2018-07-01 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001199813 | SCV001162510 | pathogenic | Retinitis pigmentosa | 2020-01-09 | criteria provided, single submitter | research | |
Invitae | RCV000658866 | SCV003343252 | pathogenic | not provided | 2022-04-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser402*) in the FAM161A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FAM161A are known to be pathogenic (PMID: 20705278, 20705279, 24651477). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FAM161A-related conditions. ClinVar contains an entry for this variant (Variation ID: 546863). For these reasons, this variant has been classified as Pathogenic. |