Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001207091 | SCV001378430 | pathogenic | Tyrosinemia type I | 2023-12-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val206Cysfs*18) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FAH-related conditions. ClinVar contains an entry for this variant (Variation ID: 937956). For these reasons, this variant has been classified as Pathogenic. |
Mayo Clinic Laboratories, |
RCV002249796 | SCV002520054 | pathogenic | not provided | 2021-11-15 | criteria provided, single submitter | clinical testing | PM2, PM3, PVS1 |
Baylor Genetics | RCV001207091 | SCV004195874 | likely pathogenic | Tyrosinemia type I | 2024-03-29 | criteria provided, single submitter | clinical testing |