ClinVar Miner

Submissions for variant NM_000137.3(FAH):c.786G>A (p.Trp262Ter) (rs80338899)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000012648 SCV000485250 pathogenic Tyrosinemia type I 2015-12-21 criteria provided, single submitter clinical testing
Invitae RCV000012648 SCV000756182 pathogenic Tyrosinemia type I 2017-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp262*) in the FAH gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs80338899, ExAC 0.09%). This variant has been reported to be a common cause of tyrosinemia type I in Scandinavia (PMID: 7942842, 8162054, 8829657). ClinVar contains an entry for this variant (Variation ID: 11873). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in FAH are known to be pathogenic (PMID: 9101289, 9633815). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012648 SCV000032883 pathogenic Tyrosinemia type I 1996-01-01 no assertion criteria provided literature only
GeneReviews RCV000012648 SCV000040454 pathologic Tyrosinemia type I 2011-08-25 no assertion criteria provided curation Converted during submission to Pathogenic.

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