ClinVar Miner

Submissions for variant NM_000353.3(TAT):c.648del (p.Pro217fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003598532 SCV004558237 pathogenic Tyrosinemia type II 2023-05-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro217Hisfs*29) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TAT-related conditions. For these reasons, this variant has been classified as Pathogenic.

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