ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13651_15785-305del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069705 SCV001234894 likely pathogenic Kabuki syndrome 2019-03-08 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing exons 41-48 and part of exon 40 (c.13649_15785-307del) of the KMT2D gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with KMT2D-related conditions. Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). 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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