ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.607-1G>A

dbSNP: rs771712041
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169069 SCV000220234 likely pathogenic Tyrosinemia type I 2014-04-09 criteria provided, single submitter literature only
Baylor Genetics RCV000169069 SCV004195902 pathogenic Tyrosinemia type I 2023-03-16 criteria provided, single submitter clinical testing
Invitae RCV000169069 SCV004283009 likely pathogenic Tyrosinemia type I 2023-09-25 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 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). This variant is present in population databases (rs771712041, gnomAD 0.0009%). Disruption of this splice site has been observed in individual(s) with tyrosinemia type 1 (PMID: 8557261). This variant is also known as IVS7-1G>A. ClinVar contains an entry for this variant (Variation ID: 188755). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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