ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.10740+1G>A

dbSNP: rs2120450900
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001975051 SCV002242151 pathogenic Kabuki syndrome 2021-10-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individual(s) with clinical features of Kabuki syndrome (PMID: 29304373; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 38 of the KMT2D 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 KMT2D are known to be pathogenic (PMID: 22126750).
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV004776453 SCV005387916 pathogenic Kabuki syndrome 1 2024-07-15 criteria provided, single submitter clinical testing

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