Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001263704 | SCV001441796 | likely pathogenic | Tyrosinemia type I | 2019-10-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001263704 | SCV001585023 | pathogenic | Tyrosinemia type I | 2022-05-22 | 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: 983701). This premature translational stop signal has been observed in individual(s) with type 1 tyrosinemia (PMID: 31965297). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp324*) in the FAH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FAH are known to be pathogenic (PMID: 9101289, 9633815). |