ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.1683+1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003021499 SCV003317095 likely pathogenic Kabuki syndrome 2 2022-02-18 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 15 of the KDM6A 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 KDM6A are known to be pathogenic (PMID: 23076834, 23913813). This variant is not present in population databases (gnomAD no frequency). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with KDM6A-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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