ClinVar Miner

Submissions for variant NM_000353.3(TAT):c.1224G>T (p.Thr408=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003464661 SCV004205707 likely pathogenic Tyrosinemia type II 2023-10-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003464661 SCV004297026 pathogenic Tyrosinemia type II 2023-12-25 criteria provided, single submitter clinical testing This sequence change affects codon 408 of the TAT mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TAT protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with tyrosinemia (PMID: 16917729; Invitae). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 11, but is expected to preserve the integrity of the reading-frame (PMID: 16917729). For these reasons, this variant has been classified as Pathogenic.

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