Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003468080 | SCV004195895 | likely pathogenic | Tyrosinemia type I | 2023-06-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003468080 | SCV004461227 | pathogenic | Tyrosinemia type I | 2023-05-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr293*) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FAH-related conditions. This variant is not present in population databases (gnomAD no frequency). |