ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.971G>A (p.Trp324Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001263704 SCV001585023 pathogenic Tyrosinemia type I 2020-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp324*) in the FAH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FAH are known to be pathogenic (PMID: 9101289, 9633815). This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with type 1 tyrosinemia (PMID: 31965297). For these reasons, this variant has been classified as Pathogenic.
Myriad Women's Health, Inc. RCV001263704 SCV001441796 likely pathogenic Tyrosinemia type I 2019-10-15 no assertion criteria provided clinical testing

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