ClinVar Miner

Submissions for variant NM_000353.3(TAT):c.1015del (p.Tyr339fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002306683 SCV002602712 likely pathogenic Tyrosinemia type II 2022-01-26 criteria provided, single submitter clinical testing NM_000353.2(TAT):c.1015delT(Y339Tfs*5) is expected to be pathogenic in the context of tyrosinemia type II. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in TAT, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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