ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.72_81dup (p.Pro28fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002635009 SCV002960855 pathogenic Tyrosinemia type I 2022-02-04 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with FAH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro28Glnfs*75) 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). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV002635009 SCV004195918 likely pathogenic Tyrosinemia type I 2022-06-17 criteria provided, single submitter clinical testing

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