Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001857217 | SCV002130216 | pathogenic | not provided | 2023-03-26 | 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: 438167). This premature translational stop signal has been observed in individual(s) with FAM161A-related conditions (PMID: 28041643, 32581362). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Asp261Valfs*39) 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). |
NIHR Bioresource Rare Diseases, |
RCV000505120 | SCV000599106 | likely pathogenic | Retinitis pigmentosa | 2015-01-01 | no assertion criteria provided | research |