ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.82-1G>A

dbSNP: rs1247460110
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667011 SCV000791397 likely pathogenic Tyrosinemia type I 2017-05-09 criteria provided, single submitter clinical testing
Invitae RCV000667011 SCV002265070 likely pathogenic Tyrosinemia type I 2021-09-08 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 551853). Disruption of this splice site has been observed in individual(s) with tyrosinemia type 1 (PMID: 23895425). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 1 of the FAH gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FAH are known to be pathogenic (PMID: 9101289, 9633815).
Baylor Genetics RCV000667011 SCV004195894 pathogenic Tyrosinemia type I 2023-07-05 criteria provided, single submitter clinical testing

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