Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV001330253 | SCV001521882 | pathogenic | Familial hemophagocytic lymphohistiocytosis 2 | 2020-04-14 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003230662 | SCV003929132 | likely pathogenic | Familial hemophagocytic lymphohistiocytosis | 2023-04-25 | criteria provided, single submitter | clinical testing | Variant summary: PRF1 c.1A>G (p.Met1Val) alters the initiation codon and is predicted to result either in absence of the protein or truncation of the encoded protein due to translation initiation at a downstream codon. Two of three in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 184456 control chromosomes (gnomAD). c.1A>G has been reported in the literature in individuals affected with Familial Hemophagocytic Lymphohistiocytosis (examples: Ueda_2007, Trizzino_2008, and Iwatani_2015). Other start loss variants c.3G>A/c.2T>C are classified pathogenic in ClinVar (CV ID 1301336, 1427863). These data indicate that the variant is likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 17266056, 26199792, 27896523, 19487666, 15632205, 17873118). One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Clinical Laboratory Sciences Program |
RCV001330253 | SCV003927948 | pathogenic | Familial hemophagocytic lymphohistiocytosis 2 | 2023-04-01 | no assertion criteria provided | clinical testing |