ClinVar Miner

Submissions for variant NM_000353.3(TAT):c.169C>T (p.Arg57Ter)

dbSNP: rs118203914
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Total submissions: 5
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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
GeneDx 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

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