Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000627249 | SCV000231477 | pathogenic | not provided | 2013-06-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000627249 | SCV000748240 | pathogenic | not provided | 2018-03-22 | criteria provided, single submitter | clinical testing | The W152X variant in the FAH gene has been reported previously in the compound heterozygous state in an individual with persistent diarrhea, hepatomegaly, ascites, elevated serum alpha-fetoprotein and tyrosine levels and elevated succinylacetone in urine. This was consistent with a diagnosis of tyrosinemia type 1 in this patient, his sister was also previously diagnosed with tyrosinemia type 1 (Dou et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W152X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret W152X as a pathogenic variant. |
Counsyl | RCV000179256 | SCV000794531 | likely pathogenic | Tyrosinemia type I | 2017-09-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000179256 | SCV000893380 | pathogenic | Tyrosinemia type I | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000179256 | SCV002237125 | pathogenic | Tyrosinemia type I | 2024-01-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp152*) 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 present in population databases (rs370686447, gnomAD 0.003%). 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: 92445). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000179256 | SCV004195889 | pathogenic | Tyrosinemia type I | 2023-07-31 | criteria provided, single submitter | clinical testing |