Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001935374 | SCV002185159 | pathogenic | Familial hemophagocytic lymphohistiocytosis 2 | 2022-10-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PRF1 protein in which other variant(s) (p.Gly317Arg) have been determined to be pathogenic (PMID: 12716377, 17525286, 19487666, 32542393). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1406224). This premature translational stop signal has been observed in individual(s) with hemophagiocytic lymphohistiocytosis (PMID: 18799942). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser301*) in the PRF1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 255 amino acid(s) of the PRF1 protein. |
Genome Diagnostics Laboratory, |
RCV002261417 | SCV002542805 | likely pathogenic | Autoinflammatory syndrome | 2017-01-30 | criteria provided, single submitter | clinical testing |