Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409747 | SCV000486722 | likely pathogenic | Tyrosinemia type I | 2016-07-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000409747 | SCV001810422 | likely pathogenic | Tyrosinemia type I | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000409747 | SCV004297664 | pathogenic | Tyrosinemia type I | 2023-03-20 | 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: 371201). This premature translational stop signal has been observed in individual(s) with tyrosinemia type 1 (PMID: 22554029). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe205Leufs*2) 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). |