ClinVar Miner

Submissions for variant NM_001002294.3(FMO3):c.133-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003723172 SCV004485836 likely pathogenic not provided 2023-10-04 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the FMO3 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 FMO3 are known to be pathogenic (PMID: 20301282). This variant is present in population databases (rs760256450, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FMO3-related conditions. 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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