ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5319+1G>A

dbSNP: rs1057520722
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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 RCV000813800 SCV000954175 likely pathogenic Kabuki syndrome 2018-10-03 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. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with KMT2D-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 22 of the KMT2D gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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