Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000000429 | SCV000797515 | likely pathogenic | Tyrosinemia type II | 2018-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000760433 | SCV000890316 | pathogenic | not provided | 2018-07-26 | criteria provided, single submitter | clinical testing | The R57X variant in the TAT gene has been reported previously in association with autosomal recessive tyrosinemia type II, when present in the homozygous state or when in trans with another disease-causing variant (Natt et al., 1992; Huhn et al., 1998). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R57X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R57X as a pathogenic variant. |
Invitae | RCV000000429 | SCV001205056 | pathogenic | Tyrosinemia type II | 2023-03-18 | 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: 402). This premature translational stop signal has been observed in individuals with tyrosinemia (PMID: 1357662, 9544843). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs118203914, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg57*) in the TAT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TAT are known to be pathogenic (PMID: 9544843). |
Baylor Genetics | RCV000000429 | SCV004205711 | pathogenic | Tyrosinemia type II | 2023-07-22 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000000429 | SCV000020577 | pathogenic | Tyrosinemia type II | 1992-10-01 | no assertion criteria provided | literature only |